Megalopapilla in oculodentodigital dysplasia: a novel ocular finding in a rare genetic disorder

Vollständiger Abstract

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Background. Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant disorder caused by pathogenic variants in the GJA1 gene and characterized by variable craniofacial, dental, digital, and ocular abnormalities. Reported ocular manifestations include microcornea, microphthalmia, glaucoma, cataract, and retinal abnormalities. We report a genetically confirmed case of ODDD with bilateral megalopapilla, a finding that has not previously been described in association with this disorder. Case Presentation. An 11-year-old boy presented with decreased vision and was found to have characteristic craniofacial, dental, and digital features suggestive of ODDD, including a narrow pinched nose, enamel hypoplasia, dental caries, and fifth-finger clinodactyly. Ophthalmologic examination revealed bilateral microcornea, myopia, persistent pupillary membrane, and markedly enlarged optic discs. Fundus photography demonstrated optic disc areas of 6.95 mm2 and 6.07 mm2 in the right and left eyes, respectively, consistent with megalopapilla. Optical coherence tomography showed choroidal thinning, while retinal nerve fiber layer thickness and visual field testing were normal. Genetic analysis identified a heterozygous NM_000165.5(GJA1): c.119C>T; (p.Ala40Val) variant in the GJA1 gene, confirming the diagnosis. Conclusion. This report describes megalopapilla as a previously unrecognized ocular finding in genetically confirmed ODDD, which may expand the phenotypic spectrum of the disease. Comprehensive ophthalmologic evaluation, including optic nerve head assessment, is essential in patients with ODDD to better characterize its full phenotypic spectrum.