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. 2024 Jun 22;14:14380. doi: 10.1038/s41598-024-65227-6

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Clinical features of the five patients with clinically relevant variants identified by WES. (A–E) Patient with JLSM syndrome exhibits bilateral buphthalmos, palpebral edema and ecchymosis (A, B); amelogenesis in the proband´s sister (C); b-mode ocular ultrasound with axial length of 24.17 mm and anterior posterior vitreous detachment (D) followed by retinal detachment in the OD (E). (F) Patient with Malan syndrome who presented dolichostenomelia, pectus excavatum, and a prominent forehead. (G,H) Patient with DEDDFA displays features of medial cleft lip and palate and iris coloboma. (I–N) Patient with LADD1 syndrome with corneal opacity in the OD (I) and clinical anophthalmos in the OS (J). B-mode ocular ultrasound revealed no ocular structures (K), facial dysmorphism (L), syndactyly (M), and abnormal pinna morphology in the affected father (N). (O,P) Fundoscopy revealed optic nerve aplasia in OS in a patient with PAPRS.