Ophthalmic genetics · 2025
Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.
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Theunis Miel, Van De Sompele Stijn, Jacob Julie, Vermeer Sascha, Van Aerschot Joseph
Аннотация
INTRODUCTION: Heimler syndrome is a rare autosomal recessive disorder at the mild end of the peroxisomal biogenesis disorders (PBDs), characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy. Nail abnormalities affect a minority.
CASE PRESENTATION: We present a 67-year-old woman diagnosed with non-syndromic retinitis pigmentosa in her fifties, who was later found to carry compound heterozygous variants in the PEX6 gene. Her medical history included prelingual hearing loss, early tooth decay, and brittle nails that were deemed unrelated for decades. Hearing loss and vision loss remained relatively stable up to last consultation.
LITERATURE REVIEW: Our literature review includes 46 published Heimler syndrome cases with confirmed molecular diagnoses. Retinal dystrophy, predominantly of the rod-cone type with pigment clumping, was present in 89% of reported cases, with macular edema noted in 40%. Serum peroxisomal metabolite abnormalities seem to correlate with worse neurodevelopmental outcomes. There are no clear genotype-phenotype correlations, although residual peroxisomal function due to the presence of at least one missense, leaky splice site, or stable truncated allele explains the relatively mild phenotype for PBD.
DISCUSSION: We underscore the importance to include syndromic disorders in the differential diagnosis of retinal dystrophy in older adults.
CASE PRESENTATION: We present a 67-year-old woman diagnosed with non-syndromic retinitis pigmentosa in her fifties, who was later found to carry compound heterozygous variants in the PEX6 gene. Her medical history included prelingual hearing loss, early tooth decay, and brittle nails that were deemed unrelated for decades. Hearing loss and vision loss remained relatively stable up to last consultation.
LITERATURE REVIEW: Our literature review includes 46 published Heimler syndrome cases with confirmed molecular diagnoses. Retinal dystrophy, predominantly of the rod-cone type with pigment clumping, was present in 89% of reported cases, with macular edema noted in 40%. Serum peroxisomal metabolite abnormalities seem to correlate with worse neurodevelopmental outcomes. There are no clear genotype-phenotype correlations, although residual peroxisomal function due to the presence of at least one missense, leaky splice site, or stable truncated allele explains the relatively mild phenotype for PBD.
DISCUSSION: We underscore the importance to include syndromic disorders in the differential diagnosis of retinal dystrophy in older adults.