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Features include always present findings: Bone spicule pigmentation of the retina, Nyctalopia, Perifoveal ring of hyperautofluorescence, and Dull foveal reflex and others; and very common findings: Constriction of peripheral visual field. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Hypoautofluorescent retinal lesion, Retinal arteriolar constriction, Optic disc pallor |
Phenotype severity distribution: 7 always present features, 1 very common feature, 2 common features.
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC
Online Mendelian Inheritance in Man
Bones and joints |
1 |
Bone spicule pigmentation of the retina |
Muscles | 1 | Retinal pigment epithelial atrophy |