Retinitis
Pigmentosa
Visual Loss Gerald A. Fishman, MD
\s=b\ A total of 174 patients (347 eyes) with retinitis pigmentosa were categorized by genetic type and assessed as to the degree of central visual loss. The degree of central visual loss was mildest in cases of autosomal-dominant inheritance and most extensive in cases of X-linked recessive inheritance. Slightly more than one third (34%) of all eyes had acuity of 20/ 200 or less, while only 55% had vision of 20/60 or better. The data in this study provide general guidelines for counseling individual patients with retinitis pigmentosa as to the potential and extent of future central visual loss.
(Arch Ophthalmol 96:1185-1188, 1978) A lthough discussed in
general terms
±\. by previous authors,1"
visual loss in patients with the various genetic types of retinitis pigmentosa has not, to my knowledge, been described with actuarial documentation. The present study provides specific data on the incidence of visual loss with age for these subjects.
tion and, in the majority of cases, abnormal cone function were demonstrated on ERG. Most patients showed various degrees of bone-spicule pigmentary clumping and migration. Patients with systemic syn¬ dromes associated with retinitis pigmen¬ tosa (eg, Usher's syndrome) or patients with unilateral disease were not included in this study. The genetic categories and
assignment were described previously.5 The acuity for each patient
criteria for
represents the best corrected vision. No attempt was made to tabulate the reasons
for central visual loss, eg, cataract macular lesion, or both.
or
RESULTS
Forty-five patients (90 eyes)
were
75 70 1
·
65
60
55
'
50 -
45 -
40
35
30
A total of 174 consecutive patients (347 eyes) with retinitis pigmentosa had a thor¬
25
m·
%
—
«
·
-
20
tion of the cornea, lens, and vitreous. The majority also had tests of dark adaptation, using the Goldmann-Weekers dark adaptometer, and peripheral fields measured on a Goldmann perimeter, as well as fluores¬ cein angiography and electroretinography (ERG). All patients complained to some degree of nyctalopia. Abnormal rod fune-
15
Chicago. Reprint requests to the University of Illinois Eye and Ear Infirmary, 1855 W Taylor St, Chicago, IL 60612 (Dr Fishman).
·
-
ough ophthalmologic examination that included slit-lamp biomicroscopic evalua¬
for publication Oct 27, 1977. From the Department of Ophthalmology, University of Illinois Eye and Ear Infirmary,
·
-
METHODS AND CLINICAL POPULATION
Accepted
•i
10
H
-
20/1520/30
20/4020/60
20/7020/100 Visual
20/20020/400
CF HM
LP
NLP
Acuity
Fig 1.—Central visual acuity loss with age in patients with autosomal-dominant and probable autosomal-dominant inheritance (45 patients; 90 eyes). CF indicates counting fingers; HM, hand motion; LP, light perception; NLP, no light perception.
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Fig 2—Visual loss with age in patients with X-linked recessive retinitis pigmentosa (28 patients; 56 eyes). CF indicates counting fingers; HM, hand motion; LP, light perception; NLP, no light perception.
20/15 20/30
20/4020/60
20/7020/100 Visual
classified
as
either autosomal-domi¬
(36 patients) or probable auto¬ somal-dominant (9 patients). Figure 1 nant
shows visual acuity and age for these 45 patients. Note that a substantial number of patients have maintained acuity of 20/60 or better, even beyond age 40 years. A similar scattergram for the 28 patients with X-linked recessive inheritance in this study is depicted in Fig 2. All patients older than age 30 had acuity of less than 20/ 200. Similarly represented data for the 28 patients with autosomal-recessive and the 6 patients with probable autosomal-recessive inheritance are shown in Fig 3, while Fig 4 provides data on 65 patients considered to be isolated or sporadic cases. Two addi-
20/20020/400
CF
HM
LP
NLP
Acuity
tional cases categorized as "genetic type undetermined" were too few in number for a meaningful plot of their visual loss. The Table summarizes and compares the degree of visual loss among genetic types. COMMENT
Among others, Krill1 and Jay- have commented that patients with autoso¬ mal-dominant retinitis pigmentosa have a lesser incidence and later onset of central visual loss. This finding has been attributed to the less frequent involvement of the macula and the later onset of lens opacification. Con¬ versely, patients with X-linked reces¬ sive and autosomal-recessive retinitis pigmentosa are cited as having a less
favorable prognosis for the retention of central vision.12 Considering the above generally accepted views, the findings in the present study were not surprising. In need of additional investigation, however, is why some patients within the autosomal-domi¬ nant group, as seen in Fig 1, more readily lose central vision than others. The relative contribution of different environmental influences vs genetic heterogeneity within the autosomaldominant group is as yet uncertain. The variable prognosis for visual loss in the autosomal-recessive and iso¬ lated cases (Fig 3 and 4) also suggests, among other possible variables, either environmental influence, genetic het¬ erogeneity (in the case of autosomal-
Downloaded From: http://archopht.jamanetwork.com/ by a Karolinska Institutet University Library User on 05/24/2015
75-.
70 -
·
··
65
60 •
55-
·
50-
•
45-
·
m*
Fig 3.—Findings of visual loss with age in 34 patients (68 eyes) with either autosomal-recessive or probable autosomal-reces¬ sive inheritance. CF indicates counting fingers; HM, hand mo¬
40 -
3530
tion; LP, light perception; NLP, no
25
light perception.
201510
5
H -1-1-r
20/1520/30
20/4020/60
-r
20/7020/100
20/20020/400 Visual Acuity
Vision in Retinitis
20/20-20/30 20/40-20/60 20/70-20/100 20/200-2/400 CF, HM, LP
NLP
Pigmentosa (347 Eyes)
Genetic Vision
CF HM LP
Types,
%
Autosomal-Dominant
Autosomal-Recessive
X-Linked Recessive
Undetermined
(90 Eyes)
(68 Eyes)
(56 Eyes)
(4 Eyes)
59 16
24
18
19 12 32 13
20
50
34 18
50
14
29
NLP
*CF indicates counting fingers; HM, hand motion; LP, light perception; and NLP,
no
Sporadic (129 Eyes)
light perception.
Downloaded From: http://archopht.jamanetwork.com/ by a Karolinska Institutet University Library User on 05/24/2015
27 19 16
Total
(347 Eyes) 33 22 11 22 11
75-1 70
65 -
6055
\
·
50 45 40
*
35
•
·
-
Fig 4.—Visual loss with age in 65 patients (129 eyes) considered isolated (sporadic) cases of ret¬ initis pigmentosa. CF indicates counting fingers; HM, hand mo¬ tion; LP, light perception; NLP, no light perception.
·
··
30 -
••ts
25 -
-
··
20 -
1510" 5
-1-1-r 20/1520/4020/7020/20020/100 20/30 20/60 20/400 Visual Acuity
recessive inheritance), or the in¬ fluence of the patient's genetic milieu (eg, modifying genes) on the degree of expression of visual loss. Interest¬ ingly, the present study shows that slightly more than one third (34%) of the 347 eyes included in this study had central acuity of 20/200 or less. In addition, only 55% of all eyes had acuity of 20/60 or better, while only one third of the 347 eyes had vision of
-
CF
HM
LP
NLP
20/30 or better. This rather sub¬ stantial degree of central vision loss in patients with retinitis pigmentosa was also recently emphasized by Pearlman and co-workers." Since, in addition to macular lesions, lens opacities also contributed to the degree of visual impairment in at least some patients in the present study, presumably the visual potential in individual patients was somewhat
better than
cited in the Table; nevertheless, the data from this study can
provide
some
general guidelines
for counseling an individual patient with retinitis pigmentosa as to the potential and extent of future central visual loss.
Morton F. reviewed the
Goldberg, MD, manuscript.
and Maxine Gere
References 1. Krill AE: Retinitis pigmentosa: A review. Sight Sav Rev 42:21-28, 1972. 2. Jay B: Hereditary aspects of pigmentary retinopathy. Trans Ophthalmol Soc UK 92:173\x=req-\
178, 1972.
3. Merin
S, Auerbach E: Retinitis pigmentosa.
Surv
Ophthalmol 20:303-346,
1976.
dystrophy: Primary, hereditary, pigmentary retinopathy, retinitis pigmentosa, in Krill AE: Hereditary Retinal and Choroidal Diseases. Hagerstown, Md, Harper & Row, 1977 vol 2, pp 479-576. 4. Deutman AF: Rod-cone
5. Fishman GA: Retinitis
pigmentosa: Genetic
percentages. Arch Ophthalmol, 96:822-826, 1978.
6. Pearlman JT, Axelrod RN, Tom A: Frequency of central visual impairment in retinitis pigmentosa. Arch Ophthalmol 95:894, 1977.
Downloaded From: http://archopht.jamanetwork.com/ by a Karolinska Institutet University Library User on 05/24/2015
Pigmentosa
Visual Loss Gerald A. Fishman, MD
\s=b\ A total of 174 patients (347 eyes) with retinitis pigmentosa were categorized by genetic type and assessed as to the degree of central visual loss. The degree of central visual loss was mildest in cases of autosomal-dominant inheritance and most extensive in cases of X-linked recessive inheritance. Slightly more than one third (34%) of all eyes had acuity of 20/ 200 or less, while only 55% had vision of 20/60 or better. The data in this study provide general guidelines for counseling individual patients with retinitis pigmentosa as to the potential and extent of future central visual loss.
(Arch Ophthalmol 96:1185-1188, 1978) A lthough discussed in
general terms
±\. by previous authors,1"
visual loss in patients with the various genetic types of retinitis pigmentosa has not, to my knowledge, been described with actuarial documentation. The present study provides specific data on the incidence of visual loss with age for these subjects.
tion and, in the majority of cases, abnormal cone function were demonstrated on ERG. Most patients showed various degrees of bone-spicule pigmentary clumping and migration. Patients with systemic syn¬ dromes associated with retinitis pigmen¬ tosa (eg, Usher's syndrome) or patients with unilateral disease were not included in this study. The genetic categories and
assignment were described previously.5 The acuity for each patient
criteria for
represents the best corrected vision. No attempt was made to tabulate the reasons
for central visual loss, eg, cataract macular lesion, or both.
or
RESULTS
Forty-five patients (90 eyes)
were
75 70 1
·
65
60
55
'
50 -
45 -
40
35
30
A total of 174 consecutive patients (347 eyes) with retinitis pigmentosa had a thor¬
25
m·
%
—
«
·
-
20
tion of the cornea, lens, and vitreous. The majority also had tests of dark adaptation, using the Goldmann-Weekers dark adaptometer, and peripheral fields measured on a Goldmann perimeter, as well as fluores¬ cein angiography and electroretinography (ERG). All patients complained to some degree of nyctalopia. Abnormal rod fune-
15
Chicago. Reprint requests to the University of Illinois Eye and Ear Infirmary, 1855 W Taylor St, Chicago, IL 60612 (Dr Fishman).
·
-
ough ophthalmologic examination that included slit-lamp biomicroscopic evalua¬
for publication Oct 27, 1977. From the Department of Ophthalmology, University of Illinois Eye and Ear Infirmary,
·
-
METHODS AND CLINICAL POPULATION
Accepted
•i
10
H
-
20/1520/30
20/4020/60
20/7020/100 Visual
20/20020/400
CF HM
LP
NLP
Acuity
Fig 1.—Central visual acuity loss with age in patients with autosomal-dominant and probable autosomal-dominant inheritance (45 patients; 90 eyes). CF indicates counting fingers; HM, hand motion; LP, light perception; NLP, no light perception.
Downloaded From: http://archopht.jamanetwork.com/ by a Karolinska Institutet University Library User on 05/24/2015
Fig 2—Visual loss with age in patients with X-linked recessive retinitis pigmentosa (28 patients; 56 eyes). CF indicates counting fingers; HM, hand motion; LP, light perception; NLP, no light perception.
20/15 20/30
20/4020/60
20/7020/100 Visual
classified
as
either autosomal-domi¬
(36 patients) or probable auto¬ somal-dominant (9 patients). Figure 1 nant
shows visual acuity and age for these 45 patients. Note that a substantial number of patients have maintained acuity of 20/60 or better, even beyond age 40 years. A similar scattergram for the 28 patients with X-linked recessive inheritance in this study is depicted in Fig 2. All patients older than age 30 had acuity of less than 20/ 200. Similarly represented data for the 28 patients with autosomal-recessive and the 6 patients with probable autosomal-recessive inheritance are shown in Fig 3, while Fig 4 provides data on 65 patients considered to be isolated or sporadic cases. Two addi-
20/20020/400
CF
HM
LP
NLP
Acuity
tional cases categorized as "genetic type undetermined" were too few in number for a meaningful plot of their visual loss. The Table summarizes and compares the degree of visual loss among genetic types. COMMENT
Among others, Krill1 and Jay- have commented that patients with autoso¬ mal-dominant retinitis pigmentosa have a lesser incidence and later onset of central visual loss. This finding has been attributed to the less frequent involvement of the macula and the later onset of lens opacification. Con¬ versely, patients with X-linked reces¬ sive and autosomal-recessive retinitis pigmentosa are cited as having a less
favorable prognosis for the retention of central vision.12 Considering the above generally accepted views, the findings in the present study were not surprising. In need of additional investigation, however, is why some patients within the autosomal-domi¬ nant group, as seen in Fig 1, more readily lose central vision than others. The relative contribution of different environmental influences vs genetic heterogeneity within the autosomaldominant group is as yet uncertain. The variable prognosis for visual loss in the autosomal-recessive and iso¬ lated cases (Fig 3 and 4) also suggests, among other possible variables, either environmental influence, genetic het¬ erogeneity (in the case of autosomal-
Downloaded From: http://archopht.jamanetwork.com/ by a Karolinska Institutet University Library User on 05/24/2015
75-.
70 -
·
··
65
60 •
55-
·
50-
•
45-
·
m*
Fig 3.—Findings of visual loss with age in 34 patients (68 eyes) with either autosomal-recessive or probable autosomal-reces¬ sive inheritance. CF indicates counting fingers; HM, hand mo¬
40 -
3530
tion; LP, light perception; NLP, no
25
light perception.
201510
5
H -1-1-r
20/1520/30
20/4020/60
-r
20/7020/100
20/20020/400 Visual Acuity
Vision in Retinitis
20/20-20/30 20/40-20/60 20/70-20/100 20/200-2/400 CF, HM, LP
NLP
Pigmentosa (347 Eyes)
Genetic Vision
CF HM LP
Types,
%
Autosomal-Dominant
Autosomal-Recessive
X-Linked Recessive
Undetermined
(90 Eyes)
(68 Eyes)
(56 Eyes)
(4 Eyes)
59 16
24
18
19 12 32 13
20
50
34 18
50
14
29
NLP
*CF indicates counting fingers; HM, hand motion; LP, light perception; and NLP,
no
Sporadic (129 Eyes)
light perception.
Downloaded From: http://archopht.jamanetwork.com/ by a Karolinska Institutet University Library User on 05/24/2015
27 19 16
Total
(347 Eyes) 33 22 11 22 11
75-1 70
65 -
6055
\
·
50 45 40
*
35
•
·
-
Fig 4.—Visual loss with age in 65 patients (129 eyes) considered isolated (sporadic) cases of ret¬ initis pigmentosa. CF indicates counting fingers; HM, hand mo¬ tion; LP, light perception; NLP, no light perception.
·
··
30 -
••ts
25 -
-
··
20 -
1510" 5
-1-1-r 20/1520/4020/7020/20020/100 20/30 20/60 20/400 Visual Acuity
recessive inheritance), or the in¬ fluence of the patient's genetic milieu (eg, modifying genes) on the degree of expression of visual loss. Interest¬ ingly, the present study shows that slightly more than one third (34%) of the 347 eyes included in this study had central acuity of 20/200 or less. In addition, only 55% of all eyes had acuity of 20/60 or better, while only one third of the 347 eyes had vision of
-
CF
HM
LP
NLP
20/30 or better. This rather sub¬ stantial degree of central vision loss in patients with retinitis pigmentosa was also recently emphasized by Pearlman and co-workers." Since, in addition to macular lesions, lens opacities also contributed to the degree of visual impairment in at least some patients in the present study, presumably the visual potential in individual patients was somewhat
better than
cited in the Table; nevertheless, the data from this study can
provide
some
general guidelines
for counseling an individual patient with retinitis pigmentosa as to the potential and extent of future central visual loss.
Morton F. reviewed the
Goldberg, MD, manuscript.
and Maxine Gere
References 1. Krill AE: Retinitis pigmentosa: A review. Sight Sav Rev 42:21-28, 1972. 2. Jay B: Hereditary aspects of pigmentary retinopathy. Trans Ophthalmol Soc UK 92:173\x=req-\
178, 1972.
3. Merin
S, Auerbach E: Retinitis pigmentosa.
Surv
Ophthalmol 20:303-346,
1976.
dystrophy: Primary, hereditary, pigmentary retinopathy, retinitis pigmentosa, in Krill AE: Hereditary Retinal and Choroidal Diseases. Hagerstown, Md, Harper & Row, 1977 vol 2, pp 479-576. 4. Deutman AF: Rod-cone
5. Fishman GA: Retinitis
pigmentosa: Genetic
percentages. Arch Ophthalmol, 96:822-826, 1978.
6. Pearlman JT, Axelrod RN, Tom A: Frequency of central visual impairment in retinitis pigmentosa. Arch Ophthalmol 95:894, 1977.
Downloaded From: http://archopht.jamanetwork.com/ by a Karolinska Institutet University Library User on 05/24/2015
