MCA/MR anomaly – case report

Malgorzata Mrugacz; Do­ro­ta Śre­dziń­ska­-K­ita; Ali­na Ba­ku­no­wi­cz-Ł­aza­rczyk; Beata Urban

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica Supplement

Current supplement Archive Acta Ophthalmologica Polonica

3/2004
vol. 106

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abstract:

Case report

MCA/MR anomaly – case report

Malgorzata Mrugacz

¹

,

Dorota Średzińska-Kita

¹

,

Alina Bakunowicz-Łazarczyk

¹

,

Beata Urban

¹

Z Kliniki Okulistyki Dziecięcej Akademii Medycznej w Białymstoku

KLINIKA OCZNA 2004, Supl. 3: S538–S539

Online publish date: 2022/12/29

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Purpose
MCA/MR (Cohen syndrome) is a multiple congenital anomalies retardation syndrome with autosomal recessive inheritance. The clinical criteria are nonspecific. The diagnosis was based on the triad: hypotonia, truncal obesity and prominent central incisors. Added to the clinical spectrum ophthalmologic findings such as antymongoloid eye slant and retinal changes, are very important to diagnosis.

Material and methods
The authors present a case of 11-year-old boy with MCA/MR.

Results
In this patient we found decreased visual acuity, myopia and retinal abnormalities.

Conclusions
Cohen syndrome is a congenital anomaly with general and ophthalmological findings.

keywords:

MCA/MR anomaly – case report

Malgorzata Mrugacz 1 , Do­ro­ta Śre­dziń­ska­-K­ita 1 , Ali­na Ba­ku­no­wi­cz-Ł­aza­rczyk 1 , Beata Urban 1

MCA/MR syndrome, eye

Malgorzata Mrugacz

¹

,

Dorota Średzińska-Kita

¹

,

Alina Bakunowicz-Łazarczyk

¹

,

Beata Urban

¹