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AHR variants have been rarely identified in individuals with foveal hypoplasia. In an initial cohort of 33 families with isolated foveal hypoplasia and infantile nystagmus, no pathogenic AHR changes were detected (PMID:34415986). In a subsequent multicenter study of 907 patients, AHR variants accounted for only 0.4% of cases (PMID:35157951). No familial segregation or recurrent AHR variants have been reported, and specific variant details remain limited.
The absence of case‐level segregation data and the lack of functional or developmental model studies in ocular tissues preclude firm conclusions on AHR’s role in foveal development. No experimental assays in retinal organoids, animal models, or rescue experiments have been documented. Consequently, the clinical validity of AHR in foveal hypoplasia is categorized as Limited under ClinGen guidelines. Further genetic characterization and mechanistic studies are needed to clarify any potential contribution of AHR to foveal morphogenesis.
Key Take-home: Current evidence is insufficient to support routine diagnostic screening of AHR in foveal hypoplasia.
Gene–Disease AssociationLimitedAHR variants identified in only ~0.4% of 907 patients, no segregation observed ([PMID:35157951]); none in initial 33 families ([PMID:34415986]). Genetic EvidenceLimitedSingle AHR variant detection in ~4 probands (0.4%) of large cohort; no reported segregation or case-level validation ([PMID:35157951]). Functional EvidenceNo known evidenceNo ocular-specific functional studies of AHR variants in foveal development. |