Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.

Abstract

H ypotrichosis associated with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by short scalp hair from birth and progressive macular degeneration. Loss of central vision usually occurs between the second and fourth decades of life. Mutations in the P-cadherin gene (CDH3; GenBank NM_001793) were first reported to underlie HJMD by Sprecher et al; splice, missense, and nonsense mutations have since been described. Report of a Case. A 48-year-old man had a 21-year history of deterioration of central vision. The original diagnosis was Stargardt disease. Initial symptoms at age 17 years included photosensitivity, abnormal color vision, and central scotomata. His sister has the same phenotype and the parents were likely to be related. The proband and his sister both gave a history of having very fine, sparse hair that never thickened, with a persistently visible scalp (Figure 1A). Funduscopy in the proband revealed bilateral symmetrical macular degeneration with sparing of the peripheral retina (Figure 1B and C). Visual acuities were 6/760 OD and 6/96 OS. Goldmann visual field testing showed bilateral central scotomata (Figure 1D). Electrophysiology showed extinguished pattern electroretinograms, normal scotopic responses, and significant reduction in amplitudes of both a and b waves in the standard flash electroretinogram and photopic responses. The electro-oculogram light rise was normal in both eyes.