Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.
This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar ataxia (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal blindness (AIPL1 and RPE65), two with mitochondrial encephalomyopathy overlap syndrome (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant late-onset retinal degeneration (CTRP5). No histopathologic descriptions were found of the vast majority of genetically defined forms of retinal degeneration.
Ben-Arie-Weintrob
Yael
Y
The Cogan Eye Pathology Laboratory and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye & Ear Infirmary, 243 Charles Street, Boston, MA 02114, U.S.A.
Berson
Eliot L
EL
Dryja
Thaddeus P
TP
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001766:Blindness / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000473:pathology; D013577:Syndrome
D005136:Eye Proteins