Coats plus in prematurity.

Abstract

BACKGROUND:

Coats plus syndrome or cerebroretinal microangiopathy with calcifications and cysts (CMCC) is an exceedingly rare autosomal recessive disorder that predominantly affects the microvasculature in the retina, brain, bones, and gastrointestinal system. Unlike Coats disease, CMCC is bilateral and affects multiple organ systems.

MATERIALS AND METHODS:

Case report.

RESULTS:

We report the case of two brothers with Coats Plus syndrome who presented with variable phenotypic expression. One sibling (Patient 1) was thought to have atypical retinopathy of prematurity and was only diagnosed with Coats plus after his older brother (Patient 2) presented with a seizure and a left upper extremity tremor at 4 years of age. The CTC1 mutation was confirmed in both patients. Aggressive treatment with laser photocoagulation and intravitreal bevacizumab dramatically improved the retinal vascular and exudative changes.

CONCLUSION:

Coats Plus syndrome can have a variable phenotypic presentation, including retinal vascular findings. This rare genetic disease should be in the differential diagnosis in patients who present with atypical retinal pathology, including Retinopathy of Prematurity, Familial Exudative Vitreoretinopathy, or Coats disease associated with non-specific multiorgan abnormalities.

• Authors: Ashley López-Cañizares, Maria P Fernandez, Hasenin Al-Khersan, Piero Carletti, Monica S Arroyo, Maria C Fernandez-Ruiz, Audina M Berrocal
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 43 Issue 4 Pg. 543-549 (08 2022) ISSN: 1744-5094 [Electronic] England
• PMID: 35416114 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, Non-P.H.S.)

Topics

• Ataxia
• Brain Neoplasms
• Calcinosis
• Central Nervous System Cysts (genetics)
• Humans
• Infant, Newborn
• Laser Coagulation
• Leukoencephalopathies (genetics)
• Male
• Muscle Spasticity
• Retinal Diseases
• Retinal Telangiectasis (diagnosis, genetics, therapy)
• Retinopathy of Prematurity (diagnosis, genetics)
• Seizures