Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report

• Published in: Arquivos brasileiros de oftalmologia Vol. 85; no. 1; pp. 85 - 87
• Main Authors: Silva, Mariana W de Barros E, Martins, Alline, Medeiros, Analine L de, Vasconcelos, Adriano de, Ventura, Camila V
• Format: Journal Article
• Language: English; Portuguese
• Published: Brazil Conselho Brasileiro de Oftalmologia 01.01.2022
• Subjects: Child, Preschool; Coloboma - diagnosis; Coloboma - genetics; Exome Sequencing; Eye Abnormalities; Humans; Iris; Male; OPHTHALMOLOGY; Syndrome; Vesicular Transport Proteins - genetics; Defi ciência do desenvolvimento; Microphthalmos; Optic nerve; Manifestação ocular; Nervo óptico; Fenótipo; Syndrome; Abnormality; Multiple/genetics; Phenotype; Developmental disability; Síndrome; Anormalidade múltipla/genética; Eye manifestation; Microftalmia
• ISSN: 1678-2925; 1678-2925
• DOI: 10.5935/0004-2749.20220013

This is a case report of a 2-year-old male patient with cognitive delay, facial abnormalities, and microcornea in the right eye, who was referred for ophthalmological investigation. The initial ophthalmological examination revealed hypertelorism, epicanthus, nystagmus, esotropia, and microcornea in the right eye. The examination under anesthesia revealed microphthalmia in the right eye, and iris, retina, and optic nerve coloboma in both eyes. Whole exome sequencing revealed evidence of a heterozygotic pathogenic variant in PACS1. The PACS1 pathogenic variant in association with the clinical findings confirmed the diagnosis of Schuurs-Hoeijmakers syndrome. To our knowledge, this is the first report to describe microcornea and microphthalmia as additional ocular manifestations of Schuurs-Hoeijmakers syndrome.