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Phenotypic Spectrum of Autosomal Recessive Cone–Rod Dystrophies Caused by Mutations in the ABCA4 (ABCR) Gene

¹ From the Departments of Ophthalmology and ³ Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands; and the ² University Eye Clinic, Ruprecht-Karls University, Heidelberg, Germany.

PURPOSE. To describe the phenotype of 12 patients with autosomal recessive or isolated cone–rod types of progressive retinal degeneration (CRD) caused by mutations in the ABCA4 gene.

METHODS. The charts of patients who had originally received a diagnosis of isolated or autosomal recessive CRD were reviewed after molecular analysis revealed mutations in the ABCA4 gene.

RESULTS. In two of the patients both the photopic and scotopic electroretinogram were nonrecordable. In the remainder, the photopic cone b-wave amplitudes appeared to be more seriously affected than the scotopic rod b-wave amplitudes. Although the clinical presentation was heterogeneous, all patients experienced visual loss early in life, impaired color vision, and a central scotoma. Fundoscopy revealed evidence of early-onset maculopathy, sometimes accompanied by involvement of the retinal periphery in the later stages of the disease.

CONCLUSIONS. Mutations in the ABCA4 gene are the pathologic cause of the CRD-like dystrophy in these patients, and the resultant clinical pictures are complex and heterogeneous. Given this wide clinical spectrum of CRD-like phenotypes associated with ABCA4 mutations, detailed clinical subclassifications are difficult and may not be very useful.

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