Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?

RB Fitzsimons - Neuromuscular Disorders, 2011 - Elsevier
The peripheral retinal vascular abnormality which accompanies FSHD belongs
morphologically and clinically to a class of developmental 'retinal hypovasculopathies' …

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes

DM Hutchison, A Duffens, K Yale, A Park… - Journal of the …, 2022 - Wiley Online Library
Long eyelashes have been popularized and many commercially available products exist to
achieve eyelash growth as a desired cosmetic effect. Eyelash trichomegaly may be induced …

[HTML][HTML] Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome

L Feng, D Zhou, Z Zhang, Y Liu, Y Yang - Journal of human genetics, 2014 - nature.com
Abstract Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous
developmental disorder. The clinical features of CdLS include growth retardation …

Adult-onset Coats disease

M Banerjee, S Nayak, S Kumar, AA Bhayana… - Survey of …, 2023 - Elsevier
Coats disease is an idiopathic retinal vasculopathy characterized by telangiectasia and
aneurysm of retinal vessels along with intra and subretinal exudation and fluid. While Coats …

Ophthalmologic findings in the Cornelia de Lange syndrome

A Shi, AV Levin - Ophthalmic Genetics, 2019 - Taylor & Francis
ABSTRACT Background: Cornelia de Lange syndrome (CdLS) is a congenital disorder
characterized by multisystem abnormalities, including distinct ophthalmologic findings. In …

A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature

AW Stacey, C Sparagna, M Borri, S Rizzo… - Journal of American …, 2015 - Elsevier
Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and
numerous ocular findings. We report the case of a 6-year-old boy with history of CdLS who …

Coats' Disease in a Patient With Cornelia de Lange Syndrome: Management With Laser and Bevacizumab

KF Elwood, SM Fleege, YS Bradfield… - Journal of Pediatric …, 2023 - journals.healio.com
Cornelia de Lange syndrome is a congenital disorder with multisystem abnormalities
including multiple ocular findings. The authors report a case of Coats' disease in a patient …

Systemic abnormalities in children with congenital optic disc excavations

F Beby - Current eye research, 2015 - Taylor & Francis
Purpose: Together with optic disc hypoplasia, excavated optic disc anomalies represent the
most frequent congenital abnormality involving the optic nerve head. The purpose of the …

Intraocular cholesterol crystals

IJ Khan, MV Parulekar - Postgraduate Medical Journal, 2014 - academic.oup.com
Discussion Coats disease is an uncommon cause of cholesterolosis and is one of the main
differential diagnoses for a child presenting with leucocoria (white pupillary reflex on …

[HTML][HTML] Cavitary anomalies of the optic disc: Different entities or part of a single spectrum of disease?

A Ganesh - Oman Journal of Ophthalmology, 2014 - journals.lww.com
Congenital anomalies of the optic disc are rare. The visual function is difficult to predict from
the appearance of the optic nerve. In many cases, unilateral or asymmetrical involvement …