Ocular Manifestations in Congenital Cutis Laxa: A Case Series

Congenital cutis laxa (CL) syndromes encompass a diverse group of inherited connective tissue disorders characterized by redundant, wrinkled, and inelastic skin, often with systemic involvement. Ocular involvement in CL has sporadically been reported albeit without systematic, comprehensive ocular assessment. The purpose of this study was to evaluate the ocular phenotype in an established cohort of patients with CL with a particular emphasis on corneal involvement.

A prospective cross-sectional study was conducted at Ghent University Hospital, Belgium, involving 13 genetically confirmed patients with CL. Ophthalmic evaluations included autorefraction, slit-lamp biomicroscopy, corneal tomography, ocular biometry, spectral-domain optical coherence tomography, and fundoscopy.

A total of 13 patients (26 eyes), 4 males (30%) and 9 females (69%), were assessed including 5 with ELN -related CL, 1 individual with FBLN5 -related CL, 2 with LTBP4 -related CL, 4 with ATP6V0A2- related CL, and 1 with PYCR1 -related CL. Six patients (46%) were emmetropic, 5 (38%) myopic, and 2 (15%) hyperopic. Reduced corrected visual acuity was detected solely in patients with the ATP6V0A2 subtype. Three (23.1%) cases of keratoconus were detected in the cohort. All 4 patients with ATP6V0A2 -related CL had prominent corneal tomographic abnormalities, with either high-grade astigmatism or pronounced corneal flattening and thinning.

A high rate of corneal geometry change was detected in this heterogeneous cohort of patients with CL, including a high rate of corneal ectasia. These findings highlight the impact of elastic fiber disassembly on corneal homeostasis and indicate a need for ocular assessment including corneal imaging in patients with CL.