Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.
Ayham Awad, Basil Gheith, Amro Abu Harthiyyeh et al.
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Case in brief
Four Palestinian siblings from a consanguineous family were homozygous for the CFAP418 splice-donor variant NM_177965.3:c.155 + 1G > A. Dated ophthalmic records for the male twins showed severe visual impairment, posterior subcapsular cataracts, pigmentary retinal degeneration, macular outer-retinal abnormalities, markedly constricted visual fields and nearly absent rod and mixed electroretinographic responses, with residual cone responses. The twins had congenital postaxial polydactyly; their older brother and sister did not. Standardized contemporary eye data were unavailable for those two siblings. Reported care included ophthalmic and low-vision follow-up, optical-aid recommendations and supportive prescriptions, but treatment benefit was not measured.
What made this case unusual
The siblings shared the same molecular and retinal disease context, yet postaxial polydactyly was documented only in the twins. The authors note that incomplete systemic assessment limits characterization of organ involvement.
Diagnostic / clinical pearl
Interpret recalled symptoms cautiously: they do not establish an electrophysiological transition between retinal diagnoses. In this family, the genotype-informed Bardet-Biedl diagnostic algorithm supported a syndromic interpretation, while systemic involvement remained incompletely characterized.