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Indian Journal of Ophthalmology
Vol. 62 No. 10
T2‑weigted sequences helps in the differential diagnosis of dermoids from cystic glioma, arachnoid cysts or other lesions.[5]
References
Excision of temporal dermoids can be complicated by factors such as thin capsular wall, liquefied cyst contents, large size, rupture or leakage, adhesions to surrounding tissues, and variable involvement of bone with potential extension to the intraorbital or intracranial compartments. Where the cyst is attached to the bone, careful subperiosteal dissection is prudent as intraoperative rupture is common at these sites.[3] If a portion of the dermoid is found to extend through a small bony aperture with pronounced expansion within the intraorbital or intracranial cavity, like in our patient, it is necessary to facilitate exposure by enlarging the bony opening to allow continuing dissection from the original approach. This was performed in our patient. Some surgeons prefer to open the second compartment by a formal lateral orbitotomy or craniotomy.
2. Meyer DR, Lessner AM, Yeatts RP, Linberg JV. Primary temporal fossa dermoid cysts. Characterization and surgical management. Ophthalmology 1999;106:342‑9.
A novel mutation in a case of dominant optic atrophy?
Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, and its incidence is 1 in 50,000 persons in the United States and 1 in 10,000 persons in Denmark. Vision loss in DOA is related to retinal ganglion cell loss from mitochondrial dysfunction. DOA is a heterogeneous disease that has been mapped to chromosome 3q28, and OPA1 has been identified as the responsible gene. OPA1 codes for a dynamin‑related GTPase protein targeted to the mitochondrial inner membrane, which regulates the fusion, oxidative phosphorylation, and cell death. Of the 204 different reported OPA1 mutations in DOA, 82 are truncative N‑terminal mutations; 55 are missense mutations; and 55 are splice variants.[1‑3]
Hema L Ramkumar, Peter J Savino A 39‑year‑old healthy woman presented for decreased vision at distance and near for 4 years. She also noted a decrease in her color vision. Her best‑corrected visual acuities were 20/70 in each eye. Her visual fields were abnormal, and she had bilateral sluggish pupils, impaired color vision, and optic disc pallor. The magnetic resonance imaging of the brain, heavy metal screen, autoimmune work‑up, B12, B6, folate, erythrocyte sedimentation rate, rapid plasma reagin, and Lyme titer were all normal. Optical coherence tomography of the macula and electroretinogram were normal; the visual evoked potential was unrecordable in both eyes. She denied a family history of similar ocular issues, and genotyping of the OPA1 gene revealed a novel previously unreported mutation at IVS12+10T >C. Key words: Dominant optic atrophy (group together), OPA1, IVS12+10T >C Access this article online Quick Response Code:
Website: www.ijo.in DOI: 10.4103/0301-4738.146043 PMID: ***
Department of Ophthalmology, Shiley Eye Center, University of California‑San Diego, La Jolla, CA, USA Correspondence to: Dr. Peter Savino, Shiley Eye Center, University of California‑San Diego, 9415 Camp Point Drive, La Jolla, CA 92093‑0946, USA. E‑mail: [email protected] Manuscript received: 02.07.14; Revision accepted: 01.09.14
1. Bonavolontà G, Tranfa F, de Conciliis C, Strianese D. Dermoid cysts: 16‑year survey. Ophthal Plast Reconstr Surg 1995;11:187‑92.
3. Yasargil MG, Abernathey CD, Sarioglu AC. Microneurosurgical treatment of intracranial dermoid and epidermoid tumors. Neurosurgery 1989;24:561‑7. 4. Nakagawa K, Ohno K, Nojiri T, Hirakawa K. Interdural dermoid cyst of the cavernous sinus presenting with oculomotor palsy: Case report. No Shinkei Geka 1997;25:847‑51. 5. Lunardi P, Missori P. Supratentorial dermoid cysts. J Neurosurg 1991;75:262‑6. Cite this article as: Adulkar NG, Arunkumar MJ, Kumar SM, Kim U. Unusual case of temporal dermoid cyst presenting as oculomotor nerve palsy. Indian J Ophthalmol 2014;62:1032-4. Source of Support: Nil. Conflict of Interest: None declared.
Case Report A 39‑year‑old healthy woman complained of difficulty focusing. She stated things have not been clear at distance or near and colors, were not vivid. This has slowly been getting worse over the last 4 years. She denied any other ocular symptoms. She went to multiple optometrists and ophthalmologists who stated that nothing was wrong with her eyes except for a slightly abnormal visual field. Her vision could not be corrected with glasses. Her past ocular history is completely unremarkable. She used artificial tears as needed for comfort. She denied any known family history of decreased vision or glaucoma. Her past medical history is only notable for migraines, carpal tunnel syndrome, cholecystectomy, nephrolithiasis, rhinoplasty, and breast augmentation. She uses oral pregabalin and meclizine and has no medication allergies. She is a nonsmoker and nondrinker. Review of systems is only positive for her typical headaches. Prior to her presentation, a magnetic resonance imaging of her brain and orbits were done with and without contrast, and the interpretation was normal. A neurology evaluation demonstrated a normal electroencephalogram, electromyogram, and nerve conduction velocities. A heavy metal screen, B12, B6, folate, erythrocyte sedimentation rate, rapid plasma reagin, and Lyme titer were normal.
October 2014
Brief Communications
Her best‑corrected visual acuities vision were 20/80 oculus dexter (OD) and 20/70 oculus sinister (OS). Her external examination was unremarkable. Color vision in each eye was 1/8 Ishihara plates. Her applanation pressures were 14 mm Hg Oculus uterque (OU). Confrontation visual fields were normal in both eyes. The pupils were sluggish bilaterally with no relative afferent pupillary defect. Ocular motility was full. Slit lamp examination was unremarkable. The macula, retinal vessels and periphery were normal. The optic discs were pale bilaterally with pallor out of proportion to cupping.
1035
There was a temporal crescent and peripapillary atrophy in the right eye [Fig. 1]. Automated perimetry demonstrated severe general depression bilaterally with a possible inferior arcuate defect in the left eye [Fig. 2]. The ERG was normal; the visual evoked potential (VEP) was unrecordable in both eyes. Optic nerve optical coherence tomography (OCT) demonstrated symmetric severe retinal nerve fiber layer (RNFL) thinning (average 59 µm OD and 58 µm OS), most superiorly and inferiorly with temporal sparing [Fig. 3]. OCT of the macula revealed a preserved photoreceptor inner segment/outer segment junction and a normal fovea. OPA1 gene sequencing at Athena diagnostics® (Worcester, MA, USA) revealed DNA variant transition T >C at nucleotide position IVS12+10. There is currently no published research on this gene variant.
Discussion The OPA1 mutation that this patient has, T >C at nucleotide position IVS12+10 has not previously been reported in clinical cases of DOA. While this mutation is in the noncoding region of the OPA1 gene, the patient has a clinical phenotype of DOA, making this possibly clinically significant.
Figure 1: Optic nerve photos demonstrate pallor out of proportion to cupping OU and a temporal crescent in the right eye
Dominant optic atrophy can insidiously present as mild to moderate vision loss, typically in school‑aged children ages 4-6 years of age, with a potential for progressive vision loss later in life (30-50%). About 40% of patients have a visual acuity of 20/60 or better; 45% are between 20/60 and 20/200; and 15% are below 20/200.[4,5] Visual fields commonly demonstrate central
Figure 2: Humphrey visual fields demonstrates generalized depression and an inferior arcuate defect in the left eye
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Indian Journal of Ophthalmology
Vol. 62 No. 10
OPA1‑mutated patients develop “OPA1 plus” phenotype with deafness, progressive external ophthalmoplegia and myopathy, starting from the third decade of life onward.[1] This patient had a subacute decrease in visual acuity, diffusely depressed visual fields, severe diffuse bilateral RNFL loss, symmetric dyschromatopsia, peripapillary atrophy with a temporal crescent, enlarged cup to disc ratio, and a VEP that was nonrecordable. Sequencing of the OPA1 gene revealed a novel mutation that describes a classic phenotype of DOA.
Acknowledgment The authors than Dr. Kang Zhang for his analysis of the genetic mutation.
References 1. Amati‑Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferré M, Guillet V, et al. OPA1‑associated disorders: Phenotypes and pathophysiology. Int J Biochem Cell Biol 2009;41:1855‑65. 2. Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP. OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease. Mol Genet Metab 2002;75:97‑107. 3. Votruba M. Molecular genetic basis of primary inherited optic neuropathies. Eye (Lond) 2004;18:1126‑32.
Figure 3: Optical coherence tomography of the retinal nerve fiber layer demonstrated severe thinning in both eyes
and cecocentral visual field defects, but altitudinal defects have also been reported.[6] Generalized, blue‑yellow, and red‑green dyschromatopsias have been described. Optic nerve pallor has been described to affect only the temporal nerve (52%) and the entire nerve (48%), as seen in this patient.[5] Other clinical findings reported in DOA patients include peripapillary atrophy (69%), a temporal grey crescent (31%), and an enlarged cup to disc ratio, >0.5 (48%). [3] In addition, up to 20% of
Toxic optic neuropathy: An unusual cause Hema L Ramkumar, Peter J Savino A 60‑year‑old woman with a history of chronic alcoholism and tobacco use presented with the complaint of a painless decrease in vision in both eyes. She lost vision first in the left eye then in the right eye. She admitted consuming at least one 16 ounce bottle of over the counter mouthwash daily and denied consumption of any other alcohols, methanol, or antifreeze. She stated that her vision had been continuing to deteriorate in Department of Ophthalmology, Shiley Eye Center, University of California‑San Diego, La Jolla, CA, USA Correspondence to: Dr. Peter Savino, Shiley Eye Center, University of California‑San Diego, 9415 Camp Point Drive, La Jolla, CA 92093‑0946, USA. E‑mail: [email protected] Manuscript received: 02.07.14; Revision accepted: 01.09.14
4. Eliott D, Traboulsi EI, Maumenee IH. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 1993;115:360‑7. 5. Kline LB, Glaser JS. Dominant optic atrophy. The clinical profile. Arch Ophthalmol 1979;97:1680‑6. 6. Brown J Jr, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 1997;115:95‑9.
Cite this article as: Ramkumar HL, Savino PJ. A novel mutation in a case of dominant optic atrophy?. Indian J Ophthalmol 2014;62:1034-6. Source of Support: Nil. Conflict of Interest: None declared.
both eyes. Her best‑corrected visual acuity was 4/200 in each eye. Color vision was nil in each eye. Her pupils were sluggish bilaterally, and her optic discs were flat and hyperemic with peripapillary hemorrhages. Her visual fields revealed central scotomas bilaterally. The magnetic resonance imaging of the brain and lumbar puncture were within normal limits. Antinuclear antibody, human leukocyte antigen‑B27 genotyping, and B12 were normal; serum thiamine was low. While continuing to ingest mouthwash, her vision decreased to count fingers at 2 feet, and maculopapillary bundle pallor developed. She was started on folate and thiamine supplementation. Once she discontinued mouthwash, her vision improved to 20/400 bilaterally, and her Access this article online Quick Response Code:
Website: www.ijo.in DOI: 10.4103/0301-4738.146045 PMID: *****
Copyright of Indian Journal of Ophthalmology is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Indian Journal of Ophthalmology
Vol. 62 No. 10
T2‑weigted sequences helps in the differential diagnosis of dermoids from cystic glioma, arachnoid cysts or other lesions.[5]
References
Excision of temporal dermoids can be complicated by factors such as thin capsular wall, liquefied cyst contents, large size, rupture or leakage, adhesions to surrounding tissues, and variable involvement of bone with potential extension to the intraorbital or intracranial compartments. Where the cyst is attached to the bone, careful subperiosteal dissection is prudent as intraoperative rupture is common at these sites.[3] If a portion of the dermoid is found to extend through a small bony aperture with pronounced expansion within the intraorbital or intracranial cavity, like in our patient, it is necessary to facilitate exposure by enlarging the bony opening to allow continuing dissection from the original approach. This was performed in our patient. Some surgeons prefer to open the second compartment by a formal lateral orbitotomy or craniotomy.
2. Meyer DR, Lessner AM, Yeatts RP, Linberg JV. Primary temporal fossa dermoid cysts. Characterization and surgical management. Ophthalmology 1999;106:342‑9.
A novel mutation in a case of dominant optic atrophy?
Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, and its incidence is 1 in 50,000 persons in the United States and 1 in 10,000 persons in Denmark. Vision loss in DOA is related to retinal ganglion cell loss from mitochondrial dysfunction. DOA is a heterogeneous disease that has been mapped to chromosome 3q28, and OPA1 has been identified as the responsible gene. OPA1 codes for a dynamin‑related GTPase protein targeted to the mitochondrial inner membrane, which regulates the fusion, oxidative phosphorylation, and cell death. Of the 204 different reported OPA1 mutations in DOA, 82 are truncative N‑terminal mutations; 55 are missense mutations; and 55 are splice variants.[1‑3]
Hema L Ramkumar, Peter J Savino A 39‑year‑old healthy woman presented for decreased vision at distance and near for 4 years. She also noted a decrease in her color vision. Her best‑corrected visual acuities were 20/70 in each eye. Her visual fields were abnormal, and she had bilateral sluggish pupils, impaired color vision, and optic disc pallor. The magnetic resonance imaging of the brain, heavy metal screen, autoimmune work‑up, B12, B6, folate, erythrocyte sedimentation rate, rapid plasma reagin, and Lyme titer were all normal. Optical coherence tomography of the macula and electroretinogram were normal; the visual evoked potential was unrecordable in both eyes. She denied a family history of similar ocular issues, and genotyping of the OPA1 gene revealed a novel previously unreported mutation at IVS12+10T >C. Key words: Dominant optic atrophy (group together), OPA1, IVS12+10T >C Access this article online Quick Response Code:
Website: www.ijo.in DOI: 10.4103/0301-4738.146043 PMID: ***
Department of Ophthalmology, Shiley Eye Center, University of California‑San Diego, La Jolla, CA, USA Correspondence to: Dr. Peter Savino, Shiley Eye Center, University of California‑San Diego, 9415 Camp Point Drive, La Jolla, CA 92093‑0946, USA. E‑mail: [email protected] Manuscript received: 02.07.14; Revision accepted: 01.09.14
1. Bonavolontà G, Tranfa F, de Conciliis C, Strianese D. Dermoid cysts: 16‑year survey. Ophthal Plast Reconstr Surg 1995;11:187‑92.
3. Yasargil MG, Abernathey CD, Sarioglu AC. Microneurosurgical treatment of intracranial dermoid and epidermoid tumors. Neurosurgery 1989;24:561‑7. 4. Nakagawa K, Ohno K, Nojiri T, Hirakawa K. Interdural dermoid cyst of the cavernous sinus presenting with oculomotor palsy: Case report. No Shinkei Geka 1997;25:847‑51. 5. Lunardi P, Missori P. Supratentorial dermoid cysts. J Neurosurg 1991;75:262‑6. Cite this article as: Adulkar NG, Arunkumar MJ, Kumar SM, Kim U. Unusual case of temporal dermoid cyst presenting as oculomotor nerve palsy. Indian J Ophthalmol 2014;62:1032-4. Source of Support: Nil. Conflict of Interest: None declared.
Case Report A 39‑year‑old healthy woman complained of difficulty focusing. She stated things have not been clear at distance or near and colors, were not vivid. This has slowly been getting worse over the last 4 years. She denied any other ocular symptoms. She went to multiple optometrists and ophthalmologists who stated that nothing was wrong with her eyes except for a slightly abnormal visual field. Her vision could not be corrected with glasses. Her past ocular history is completely unremarkable. She used artificial tears as needed for comfort. She denied any known family history of decreased vision or glaucoma. Her past medical history is only notable for migraines, carpal tunnel syndrome, cholecystectomy, nephrolithiasis, rhinoplasty, and breast augmentation. She uses oral pregabalin and meclizine and has no medication allergies. She is a nonsmoker and nondrinker. Review of systems is only positive for her typical headaches. Prior to her presentation, a magnetic resonance imaging of her brain and orbits were done with and without contrast, and the interpretation was normal. A neurology evaluation demonstrated a normal electroencephalogram, electromyogram, and nerve conduction velocities. A heavy metal screen, B12, B6, folate, erythrocyte sedimentation rate, rapid plasma reagin, and Lyme titer were normal.
October 2014
Brief Communications
Her best‑corrected visual acuities vision were 20/80 oculus dexter (OD) and 20/70 oculus sinister (OS). Her external examination was unremarkable. Color vision in each eye was 1/8 Ishihara plates. Her applanation pressures were 14 mm Hg Oculus uterque (OU). Confrontation visual fields were normal in both eyes. The pupils were sluggish bilaterally with no relative afferent pupillary defect. Ocular motility was full. Slit lamp examination was unremarkable. The macula, retinal vessels and periphery were normal. The optic discs were pale bilaterally with pallor out of proportion to cupping.
1035
There was a temporal crescent and peripapillary atrophy in the right eye [Fig. 1]. Automated perimetry demonstrated severe general depression bilaterally with a possible inferior arcuate defect in the left eye [Fig. 2]. The ERG was normal; the visual evoked potential (VEP) was unrecordable in both eyes. Optic nerve optical coherence tomography (OCT) demonstrated symmetric severe retinal nerve fiber layer (RNFL) thinning (average 59 µm OD and 58 µm OS), most superiorly and inferiorly with temporal sparing [Fig. 3]. OCT of the macula revealed a preserved photoreceptor inner segment/outer segment junction and a normal fovea. OPA1 gene sequencing at Athena diagnostics® (Worcester, MA, USA) revealed DNA variant transition T >C at nucleotide position IVS12+10. There is currently no published research on this gene variant.
Discussion The OPA1 mutation that this patient has, T >C at nucleotide position IVS12+10 has not previously been reported in clinical cases of DOA. While this mutation is in the noncoding region of the OPA1 gene, the patient has a clinical phenotype of DOA, making this possibly clinically significant.
Figure 1: Optic nerve photos demonstrate pallor out of proportion to cupping OU and a temporal crescent in the right eye
Dominant optic atrophy can insidiously present as mild to moderate vision loss, typically in school‑aged children ages 4-6 years of age, with a potential for progressive vision loss later in life (30-50%). About 40% of patients have a visual acuity of 20/60 or better; 45% are between 20/60 and 20/200; and 15% are below 20/200.[4,5] Visual fields commonly demonstrate central
Figure 2: Humphrey visual fields demonstrates generalized depression and an inferior arcuate defect in the left eye
1036
Indian Journal of Ophthalmology
Vol. 62 No. 10
OPA1‑mutated patients develop “OPA1 plus” phenotype with deafness, progressive external ophthalmoplegia and myopathy, starting from the third decade of life onward.[1] This patient had a subacute decrease in visual acuity, diffusely depressed visual fields, severe diffuse bilateral RNFL loss, symmetric dyschromatopsia, peripapillary atrophy with a temporal crescent, enlarged cup to disc ratio, and a VEP that was nonrecordable. Sequencing of the OPA1 gene revealed a novel mutation that describes a classic phenotype of DOA.
Acknowledgment The authors than Dr. Kang Zhang for his analysis of the genetic mutation.
References 1. Amati‑Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferré M, Guillet V, et al. OPA1‑associated disorders: Phenotypes and pathophysiology. Int J Biochem Cell Biol 2009;41:1855‑65. 2. Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP. OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease. Mol Genet Metab 2002;75:97‑107. 3. Votruba M. Molecular genetic basis of primary inherited optic neuropathies. Eye (Lond) 2004;18:1126‑32.
Figure 3: Optical coherence tomography of the retinal nerve fiber layer demonstrated severe thinning in both eyes
and cecocentral visual field defects, but altitudinal defects have also been reported.[6] Generalized, blue‑yellow, and red‑green dyschromatopsias have been described. Optic nerve pallor has been described to affect only the temporal nerve (52%) and the entire nerve (48%), as seen in this patient.[5] Other clinical findings reported in DOA patients include peripapillary atrophy (69%), a temporal grey crescent (31%), and an enlarged cup to disc ratio, >0.5 (48%). [3] In addition, up to 20% of
Toxic optic neuropathy: An unusual cause Hema L Ramkumar, Peter J Savino A 60‑year‑old woman with a history of chronic alcoholism and tobacco use presented with the complaint of a painless decrease in vision in both eyes. She lost vision first in the left eye then in the right eye. She admitted consuming at least one 16 ounce bottle of over the counter mouthwash daily and denied consumption of any other alcohols, methanol, or antifreeze. She stated that her vision had been continuing to deteriorate in Department of Ophthalmology, Shiley Eye Center, University of California‑San Diego, La Jolla, CA, USA Correspondence to: Dr. Peter Savino, Shiley Eye Center, University of California‑San Diego, 9415 Camp Point Drive, La Jolla, CA 92093‑0946, USA. E‑mail: [email protected] Manuscript received: 02.07.14; Revision accepted: 01.09.14
4. Eliott D, Traboulsi EI, Maumenee IH. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 1993;115:360‑7. 5. Kline LB, Glaser JS. Dominant optic atrophy. The clinical profile. Arch Ophthalmol 1979;97:1680‑6. 6. Brown J Jr, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 1997;115:95‑9.
Cite this article as: Ramkumar HL, Savino PJ. A novel mutation in a case of dominant optic atrophy?. Indian J Ophthalmol 2014;62:1034-6. Source of Support: Nil. Conflict of Interest: None declared.
both eyes. Her best‑corrected visual acuity was 4/200 in each eye. Color vision was nil in each eye. Her pupils were sluggish bilaterally, and her optic discs were flat and hyperemic with peripapillary hemorrhages. Her visual fields revealed central scotomas bilaterally. The magnetic resonance imaging of the brain and lumbar puncture were within normal limits. Antinuclear antibody, human leukocyte antigen‑B27 genotyping, and B12 were normal; serum thiamine was low. While continuing to ingest mouthwash, her vision decreased to count fingers at 2 feet, and maculopapillary bundle pallor developed. She was started on folate and thiamine supplementation. Once she discontinued mouthwash, her vision improved to 20/400 bilaterally, and her Access this article online Quick Response Code:
Website: www.ijo.in DOI: 10.4103/0301-4738.146045 PMID: *****
Copyright of Indian Journal of Ophthalmology is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
