1 Flashcards
Cherry-red spot at the macula
GM1, GM2 (Tay-Sachs, Sandhoff) gangliosidosis, Mucolipidosis type 1, Niemann-Pick, Farber, Retinotoxicity, Commotio, hole
Farber disease
Cherry-red spot at the macula, pinguecula-like conjunctival lesions, nodular corneal opacity
Mucolipidosis type 1
sialidosis, Cherry-red spot at the macula, corneal clouding
Retinotoxicity with cherry-red spot
quinine, dapsone, gentamicin, carbon monoxide, methanol
Tyrosinase-negative oculocutaneous albinism
“complete”, AR, <6/60, foveal hypoplasia, pendular and horizontal nystagmus, translucent pink-eyed iris, chiasm - fewer uncrossed fibres
Tyrosinase-positive oculocutaneous albinism
“incomplete”, AR, foveal hypoplasia, blue or dark-brown iris, fundus hypopigmentation, Chediak-Higashi s., Hermansky-Pudlak s., Waardenburg syndrome AD
bull’s eye macula in adults
Chloroquine maculopathy, advance Stargardt disease, Cone and cone-rod dystrophy, Fenestrated sheen macular d., Benign concentric annular macular d., Clofazimine retinopathy
bull’s eye macula in children
(5) Bardet-Biedl s., Hallervorden-Spatz s., Leber congenital amaurosis, Lipofuscinosis, AD cerebellar ataxia
Ocular albinism
XLR, hypopigmented irides and fundus. Female carriers signs mild
Waardenburg syndrome
AD, tyrosinase-positive oculocutaneous albinism, poliosis, synophrys, deafness, lateral displacement of the medial canthi, hypochromic irides with heterochromia, choroidal depigmentation
Enhanced S-cone syndrome and Goldmann-Favre syndrome
AR, S-cones hyperfunction, M and L-cones impairment, no rod function, nyclatopia, pigmentary changes, maculopathy without leakage
Juvenile X-linked retinoschisis
50% peripheral, inferotemporal, ILM RNFL, VH, CNV, subretinal exud, whitish drusen like dots, silvery peripheral dendritic, vascular sheating, pigmentary, FAF-central hypo, surrounding hyper. FA-window defect but no leakage (contrast to CMO)
