Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome).
OBJECTIVE
To report a case of Kabuki make-up syndrome (KMS) or Niikawa-Kuroki syndrome with Coats-type retinal telangiectasia, which has not been previously reported.


METHODS
Observational case report.


CONCLUSIONS
There have been only two reports of retinal pigmentation abnormalities and a single case of bilateral macular deposits in KMS, but this is the first report of a Coats type retinal telangiectasia. This case highlights the importance of thorough posterior segment examination in cases of KMS.
Anandan
M
M
Specialist Registrar, Oxford Eye Hospital, Woodstock Road, Oxford, OX2 6HE, United Kingdom.
Porter
Neroli J
NJ
Nemeth
Andrea H
AH
Blair
Edward
E
Downes
Susan M
SM
D000015:Abnormalities, Multiple / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D017075:Laser Coagulation; D008297:Male; D012164:Retinal Diseases / Q000235:genetics* / Q000601:surgery; D012171:Retinal Vessels / Q000473:pathology* / Q000601:surgery; D013577:Syndrome; D013684:Telangiectasis / Q000235:genetics* / Q000601:surgery; D014430:Twins, Monozygotic / Q000235:genetics