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J.V. Odom, M.J. Leys, B. Waldo, E. Sprecher, M. Hummel; Retinal Assessment of Hypotrichosis With Juvenile Macular Dystrophy (MJMD) . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5329.
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To describe ocular findings in a new family with the hypotrichosis with juvenile macular dystrophy syndrome (HJMD), OMIM 601553.
We examined three sisters ages 8, 9 and 11. A genetic mutation in the CDH3 gene encoding P–cadherin was confirmed. There was no consanguinity in the family. The youngest girl was diagnosed with diabetes 5 months prior to the examination. We recorded Humphrey visual fields (HVF), electrooculogram, ganzfield electroretinogram, Titmus stereopsis and HRR color vision test. Fundus images and optical coherence tomography (OCT) were obtained as well.
Uncorrected visual acuity ranged between 20/30 and 20/20 in all eyes. Spherical equivalent was between –0.25 and +1.00. Stereopsis varied between 60– 80 arc seconds for all children. HVF and color vision were normal. EOG LP/DT ratio was at least 2.00 in all eyes. Ganzfeld ERG parameters were within normal limits for amplitude, waveform and implicit time. The macula has in all 3 patients dark, deep brown lesions centered at the fovea. OCT did reveal mild thinning of the retina at the fovea in all eyes.
In this North American family, visual function appears well preserved, and better than in 19 HJMD patients from Druze and Muslim origin reported by Sprecher et al .(Nature Genetics, 29, 134–136, 2001) and Indelman et al. (J.of Invest Dermatol,119,1210–1213). This suggests the phenotype in this disorder is variable and likely also age dependent.
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