SCALP syndrome: What is it and its ophthalmic manifestations.

Am J Ophthalmol Case Rep

Department of Ophthalmology, Perth Children's Hospital, QE II Medical Centre, Nedlands, Western Australia, 6009, Australia.

Published: September 2018

Purpose: To present the ophthalmic manifestations of a 3-month old female with SCALP syndrome.

Observations: The patient presented with multiple ocular anomalies including bilateral limbal dermoids, esotropia and left optic nerve hypoplasia.

Conclusions: We describe systemic and ocular anomalies in a rare case of SCALP syndrome. This report provides additional information on the ocular anomalies not previously described that may be associated with this clinical entity.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058059PMC
http://dx.doi.org/10.1016/j.ajoc.2018.04.018DOI Listing

Publication Analysis

Top Keywords

ocular anomalies
12
scalp syndrome
8
ophthalmic manifestations
8
syndrome ophthalmic
4
manifestations purpose
4
purpose ophthalmic
4
manifestations 3-month
4
3-month female
4
female scalp
4
scalp syndromeobservations
4

Similar Publications

Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings on a 3-generation family affected with macrostomia, preauricular tags and ptosis following an autosomal dominant pattern.

Design: We generated whole-genome sequencing data for the proband, affected father, and unaffected paternal grandmother followed by Sanger sequencing on 23 family members for the top candidate gene mutations.

View Article and Find Full Text PDF

Purpose: Idiopathic elevated episcleral venous pressure (IEEVP) or Radius-Maumenee syndrome (RMS) is a rare disease without any identified underlying cause. An increasing episcleral venous pressure (EVP) leads to raised intraocular pressure (IOP) and consequently glaucomatous damage of the optic nerve. The objective of this paper is to report this rare condition as well as its clinical management.

View Article and Find Full Text PDF

A case of corneal opacity caused by atovaquone administration.

Am J Ophthalmol Case Rep

March 2025

Department of Ophthalmology and Visual Sciences, Nagasaki University Hospital, 1-7-1 Sakamoto, Nagasaki City, Nagasaki, 852-8501, Japan.

Purpose: Atovaquone is an alternative drug that is used for the prevention and treatment of pneumonia when the first-line drug, sulfamethoxazole-trimethoprim (ST combination), cannot be used due to side effects. However, atovaquone is known to cause ocular side effects including oculomucocutaneous syndrome and vortex keratopathy. In this report, we describe a patient who developed bilateral white granular diffuse corneal opacity that extended from the corneal sub-epithelium to the stroma after continuous oral atovaquone administration for 14 months.

View Article and Find Full Text PDF

Crystallin proteins serve as both essential structural and as well as protective components of the ocular lens and are required for the transparency and light refraction properties of the organ. The mouse lens crystallin proteome is represented by αA-, αB-, βA1-, βA2-, βA3-, βA4-, βB1-, βB2-, βB3-, γA-, γB-, γC-, γD-, γE, γF-, γN-, and γS-crystallin proteins encoded by 16 genes. Their mutations are responsible for lens opacification and early onset cataract formation.

View Article and Find Full Text PDF

Investigation of corneal topographic and ocular surface parameters in ocular rosacea based on skin subtypes.

J Fr Ophtalmol

January 2025

Department of Ophthalmology, Cochin Hospital, Université Paris-Cité, Assistance Publique-Hôpitaux de Paris, Paris, France; Inserm, Centre de Recherche des Cordeliers, Unit 1138 team 17, Paris, France.

Objective: To compare the corneal topographic parameters and ocular surface parameters of ocular rosacea (OR) patients across skin subtypes of the disease and healthy controls.

Methods: This prospective study included 180 eyes of 90 OR patients and 60 eyes of 30 healthy controls. Among the OR patients, 30 had phymatous (60 eyes), 30 had erythematotelangiectatic (60 eyes) and 30 had papulopustular skin types (60 eyes).

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!