Coats plus in prematurity.
Ophthalmic Genet
; 43(4): 543-549, 2022 08.
Article
in English
| MEDLINE | ID: covidwho-2062673
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 ANDMETHODS:
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.Keywords
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Retinopathy of Prematurity
/
Central Nervous System Cysts
/
Leukoencephalopathies
/
Retinal Telangiectasis
Type of study:
Case report
/
Diagnostic study
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
English
Journal:
Ophthalmic Genet
Journal subject:
Genetics, Medical
/
Ophthalmology
Year:
2022
Document Type:
Article
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