ATROPHY Optic nerve pallor, cataract AD, AR, X-linked Numerous Multiple ORAL-FACIAL-DIGITAL SYNDROME Downslanting palpebral fissures, telecanthus, hypertelorism, epicanthus
[eyewiki.aao.org]
In adult life, it usually presents either as recurrent chest infection and/or exertional dyspnea.
[lungindia.com]
Progressive retinal degeneration, night blindness, constricted visual fields, dyschromatopsia, cystoid macular edema, pigment clumps in retina, attenuated retinal vessels, waxy pallor
[eyewiki.aao.org]