Ocular treatment of children with Stuve-Wiedemann syndrome.
OBJECTIVE
Stuve-Wiedemann syndrome is a rare condition consisting of bone dysplasia, hypotony, and dysautonomia with ocular and neuropathic features. We present the ocular findings and visual outcome in 4 patients (2 siblings, 1 related cousin, and 1 unrelated patient) with this syndrome.


METHODS
A retrospective case series review. Clinical notes of 4 patients with Stuve-Wiedemann syndrome were reviewed for findings of systemic features, ocular examination, visual acuity, and ocular procedures.


RESULTS
The median age at presentation was 16 months (range, 14-72 months). All 4 cases consisted of bilateral plaque-like corneal scarring with reduced corneal sensation. Treatment comprised topical lubrication, punctal plugs, lateral tarsorrhaphies, surgical optical iridectomies when required, and aggressive visual rehabilitation with frequent refraction and occlusion therapy if necessary. Mean best-corrected visual acuity (BCVA) in the eye with best vision was 0.86 logarithm of the minimum angle of resolution (logMAR) (range, 0.72-1.1 logMAR) at presentation and 0.43 logMAR (range, 0.25-0.56 logMAR) at the last follow-up. The BCVA in the eye with worst vision was 0.98 logMAR (range, 0.72-1.3 logMAR) at presentation and 0.68 logMAR (range, 0.47-1.0 logMAR) at the last follow-up. The median follow-up was 3.2 years (range, 1.1-5.8 years).


CONCLUSIONS
All of our patients showed improved BCVA with the treatment regimen prescribed. Given these children's debilitating orthopedic problems, visual function is important and has hitherto been reported as being poor.
The Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
Anas M
AM
Injarie
Aman
A
Narang
Zubair
Z
Idrees
Anand K
AK
Saggar
Ken K
KK
Nischal
D000287:Administration, Topical; D002648:Child; D002675:Child, Preschool; D005097:Exostoses, Multiple Hereditary / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D032801:Iridectomy / Q000379:methods; D054327:Lubricants / Q000008:administration & dosage; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*; D019736:Prostheses and Implants; D012189:Retrospective Studies; D012828:Silicones / Q000008:administration & dosage; D014792:Visual Acuity / Q000502:physiology
D054327:Lubricants; D012828:Silicones