Ophthalmic genetics · 2026
ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.
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Velamala Indu Pavani, Verma Anshuman, Narula Ritesh, Chattannavar Goura, Senthil Sirisha
Аннотация
PURPOSE: To describe the clinical features, genetic variants, and management outcomes in ASPH-related ectopia lentis.
DESIGN: Seven unrelated individuals (14 eyes) with ASPH-related ectopia lentis underwent detailed ocular, systemic evaluation and genetic analysis by whole-exome sequencing.
RESULTS: The mean age at presentation was 22 years. Parental consanguinity was present in three individuals. All patients (100%) had progressive high myopia, ectopia lentis and characteristic facial dysmorphism. Lens subluxation was superior or superonasal in eleven eyes (78%) and posteriorly dislocated in three eyes (22%). Scleral thinning was noted in six eyes (43%), and one eye (7%) had spontaneous filtering bleb. Glaucoma was diagnosed in seven eyes (50%). Lensectomy was performed in eight eyes (57%): five by clear corneal approach and three via pars plana lensectomy (PPL). Postoperative filtering blebs with hypotony developed in two of three eyes that underwent PPL but in none following clear corneal approach. Cardiac abnormalities were detected in five individuals (71%). All individuals had biallelic pathogenic ASPH variants and two were novel.
CONCLUSIONS: Scleral thinning and filtering blebs frequently occur at the site of lens subluxation and worsened by scleral surgery. Early lensectomy through a clear corneal approach minimizes scleral complications. Progressive cardiovascular involvement necessitates regular systemic monitoring.
DESIGN: Seven unrelated individuals (14 eyes) with ASPH-related ectopia lentis underwent detailed ocular, systemic evaluation and genetic analysis by whole-exome sequencing.
RESULTS: The mean age at presentation was 22 years. Parental consanguinity was present in three individuals. All patients (100%) had progressive high myopia, ectopia lentis and characteristic facial dysmorphism. Lens subluxation was superior or superonasal in eleven eyes (78%) and posteriorly dislocated in three eyes (22%). Scleral thinning was noted in six eyes (43%), and one eye (7%) had spontaneous filtering bleb. Glaucoma was diagnosed in seven eyes (50%). Lensectomy was performed in eight eyes (57%): five by clear corneal approach and three via pars plana lensectomy (PPL). Postoperative filtering blebs with hypotony developed in two of three eyes that underwent PPL but in none following clear corneal approach. Cardiac abnormalities were detected in five individuals (71%). All individuals had biallelic pathogenic ASPH variants and two were novel.
CONCLUSIONS: Scleral thinning and filtering blebs frequently occur at the site of lens subluxation and worsened by scleral surgery. Early lensectomy through a clear corneal approach minimizes scleral complications. Progressive cardiovascular involvement necessitates regular systemic monitoring.