RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY.
OBJECTIVE
To report a novel presentation of dyskeratosis congenita masquerading as familial exudative vitreoretinopathy.


METHODS
Observational case series involving single family and literature review.


RESULTS
A brother and sister were diagnosed with familial exudative vitreoretinopathy at ages 4 and 2, respectively. Both patients were managed with laser photocoagulation. Eight years after the initial presentation, both siblings developed pancytopenia secondary to bone marrow failure. Laboratory work-up revealed severely shortened telomere length in both patients, and genetic testing revealed a missense mutation in the gene that encodes the reverse transcriptase component of telomerase, confirming the diagnosis of dyskeratosis congenita. The father of both children was a carrier of the same mutation, who exhibited marked retinal vascular tortuosity of the second-order vessels.


CONCLUSIONS
Dyskeratosis congenita is a severe multisystem disorder, which should be considered in cases of pediatric exudative retinopathies with concurrent signs and/or symptoms of bone marrow failure.
*Associated Retinal Consultants, Oakland University William Beaumont School of Medicine, Royal Oak, Michigan; †Department of Neurology and Ophthalmology, Michigan State University, East Lansing, Michigan; ‡Department of Ophthalmology, Beaumont Hospital-Southshore Campus, Trenton, Michigan; §Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts; ¶Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; and **Florida Retina Institute, Jacksonville, Florida.
Aristomenis
A
Thanos
Bozho
B
Todorich
Stephen M
SM
Hypes
Yoshihiro
Y
Yonekawa
Benjamin
B
Thomas
Sandeep
S
Randhawa
Kimberly A
KA
Drenser
Michael T
MT
Trese
D001851:Bone Diseases, Metabolic / Q000175:diagnosis*; D001853:Bone Marrow / Q000002:abnormalities*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000150:complications*; D015785:Eye Diseases, Hereditary; D000080345:Familial Exudative Vitreoretinopathies; D005260:Female; D006801:Humans; D008297:Male; D012160:Retina; D012164:Retinal Diseases / Q000175:diagnosis*; D058456:Retinal Telangiectasis / Q000175:diagnosis*