R E T I N I T I S PIGMENTOSA W I T H O U T P I G M E N T J E R O M E T. P E A R L M A N , M.D.,
T I M O T H Y P. F L O O D ,
A N D S T U A R T R. S E I F F , Los Angeles,
Retinitis pigmentosa without fundus pigment is not a rare or unusual form of the disease but is likely the initial stage of typical retinitis pigmentosa. 1 - 5 As such, the nonpigmented state is manifested by shorter duration of symptoms, less severe night blindness, and less impairment of the electroretinographic b wave. M A T E R I A L AND M E T H O D S
The subjects we analyzed were the first 68 consecutive patients who entered the Jules Stein Eye Institute Retinitis Pig mentosa Registry. The Registry has re corded data on all our patients with pri mary pigmentary retinal degeneration since November 1974. Our method for data gathering has been described. 6 The data sheets included patient identi fication and general information such as the mode of genetic inheritance, the age of the patient at the onset of night blind ness, and past history relating to drug ingestion or medication. The duration of the disease was defined as the patient's present age minus the age at the onset of night blindness. As the data sheets were completed, the information was trans ferred to computer punchcards. Patients with typical retinitis pigmen tosa were those with a history of night blindness, elevated rod threshold by dark adaptation, bilaterally constricted visual
From the Department of Ophthalmology, Visual Physiology Laboratory (Retina Service), Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles. This study was supported by National Institutes of Health grant EY 00331, National Eye Institute, and from the private contributions of the Sklar and Phillips families, Shreveport, Louisiana. Reprint requests to Jerome Τ. Pearlman, M.D., Jules Stein Eye Institute, UCLA School of Medi cine, Los Angeles, CA 90024.
M.D.,
B.S.
California
fields, bilateral electroretinographic bwave abnormalities, typical bilateral midperipheral or peripheral retinal pigmenta tion of the bone corpuscular variety, and fluorescein angiographie evidence of reti nal pigment epithelial disease. Patients who had no pigmentation within the retina, but who may have had a family history of the disease or character istic physiopathologic findings, were cat egorized as having retinitis pigmentosa without pigment. While there may be several categories of retinitis pigmentosa without pigment, 7 ' 8 we grouped them to gether. RESULTS
Fifteen of our 68 patients (22%) had the nonpigmented form of the disease. The various genetic modes of inheritance oc curred with the following frequencies: 5.9% were autosomal dominant; 7.4%, X-chromosome-linked recessive; 13.2%, autosomal recessive; and 73.5%, sporadic. If the autosomal-recessive group is com bined with the sporadic, since they prob ably represent the same form of autosomal-recessive inheritance, the fre quency was 86.7%; 52% were male, 48% female. An F distribution test, used to deter mine whether there was a significant dif ference between the duration of symp toms in patients with the nonpigmented form of the disease and patients with characteristic pigment deposition within the retina, showed a statistically signifi cant difference (P
T I M O T H Y P. F L O O D ,
A N D S T U A R T R. S E I F F , Los Angeles,
Retinitis pigmentosa without fundus pigment is not a rare or unusual form of the disease but is likely the initial stage of typical retinitis pigmentosa. 1 - 5 As such, the nonpigmented state is manifested by shorter duration of symptoms, less severe night blindness, and less impairment of the electroretinographic b wave. M A T E R I A L AND M E T H O D S
The subjects we analyzed were the first 68 consecutive patients who entered the Jules Stein Eye Institute Retinitis Pig mentosa Registry. The Registry has re corded data on all our patients with pri mary pigmentary retinal degeneration since November 1974. Our method for data gathering has been described. 6 The data sheets included patient identi fication and general information such as the mode of genetic inheritance, the age of the patient at the onset of night blind ness, and past history relating to drug ingestion or medication. The duration of the disease was defined as the patient's present age minus the age at the onset of night blindness. As the data sheets were completed, the information was trans ferred to computer punchcards. Patients with typical retinitis pigmen tosa were those with a history of night blindness, elevated rod threshold by dark adaptation, bilaterally constricted visual
From the Department of Ophthalmology, Visual Physiology Laboratory (Retina Service), Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles. This study was supported by National Institutes of Health grant EY 00331, National Eye Institute, and from the private contributions of the Sklar and Phillips families, Shreveport, Louisiana. Reprint requests to Jerome Τ. Pearlman, M.D., Jules Stein Eye Institute, UCLA School of Medi cine, Los Angeles, CA 90024.
M.D.,
B.S.
California
fields, bilateral electroretinographic bwave abnormalities, typical bilateral midperipheral or peripheral retinal pigmenta tion of the bone corpuscular variety, and fluorescein angiographie evidence of reti nal pigment epithelial disease. Patients who had no pigmentation within the retina, but who may have had a family history of the disease or character istic physiopathologic findings, were cat egorized as having retinitis pigmentosa without pigment. While there may be several categories of retinitis pigmentosa without pigment, 7 ' 8 we grouped them to gether. RESULTS
Fifteen of our 68 patients (22%) had the nonpigmented form of the disease. The various genetic modes of inheritance oc curred with the following frequencies: 5.9% were autosomal dominant; 7.4%, X-chromosome-linked recessive; 13.2%, autosomal recessive; and 73.5%, sporadic. If the autosomal-recessive group is com bined with the sporadic, since they prob ably represent the same form of autosomal-recessive inheritance, the fre quency was 86.7%; 52% were male, 48% female. An F distribution test, used to deter mine whether there was a significant dif ference between the duration of symp toms in patients with the nonpigmented form of the disease and patients with characteristic pigment deposition within the retina, showed a statistically signifi cant difference (P
