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Bart Leroy, Cathérine Boileau, Nadine Hanna; Variable Phenotype & Retinal Abnormalities in Ectopia Lentis Et Pupillae. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1344.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the clinical and molecular findings in affected members of a Flemish Belgian family with ectopia lentis et pupillae due to biallelic mutations in ADAMTSL4.
Three patients with ectopia lentis et pupillae and two obligate heterozygotes (parents of proband) from three generations from one family underwent aan extensive ophthalmological examination.
The 25-year old male proband (patient 1) was referred with unilateral disease but showed extremely asymmetrical signs in both eyes. BCVA was 20/20 in the RE, and LP with localization in the LE. Slit-lamp examination showed an abnormal, corrugated inferior lens border and an abnormally low number and abnormal insertion of the inferior zonular fibers in RE, and correctopia, extreme superior displacement of a cataractous lens with very few zonular remnants in the LE. Gonioscopy revealed bilateral angle recession bridged by iris processes inferiorly. Fundoscopy revealed outer retinal abnormalities, with partial hyperautofluorescence in the macula of the RE, and transretinal macular abnormalities in the LE. OCT confirmed loss of PRs and RPE in the RE, and abnormalities at all retinal levels in the left macula. The ERG was normal in BE. The 75-year old maternal grandmother of the proband (patient 2) and her 73-year old sister (patient 3) showed bilateral intravitreal lens luxation. The grandmother did not show pupillary ectopia, whereas her sister showed mildly upwardly displaced pupils, more pronounced after dilatation. Fundoscopy of the RE of patient 2 was normal in the RE, whereas foveal aplasia was evident in the LE. Macular ectopia was seen in BE of patient 3. No ocular abnormalities were observed in the two obligate heterozygotes. Molecular analysis showed segregation of two ADAMTSL4 mutations in the family, confirming autosomal recessive inheritance: c.767_786del and c.1656delG.
The phenotype of ectopia lentis et pupillae due to biallelic ADAMTSL4 mutations is variable. Presumed unilateral disease should trigger an extensive ocular examination. This is the first report of retinal abnormalities other than retinal detachments.
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