PAAO-YO Research:
Dr. Dhariana Acón

Dr. Dhariana Acón MD, a Pediatric Retina Specialist in Costa Rica has recently published two articles. Below are the salient points and links to the articles.

Leukocoria in a 2-Year-Old Patient With Atypical Optic Nerve Fiber Layer Myelination.

• Myelinated retinal nerve fiber layer is a benign retinal condition that is usually an incidental finding in a healthy patient. Visual acuity is typically not compromised.
• The authors describe the case of a 2-year-old girl who presented with atypical optic nerve fiber myelination, who was referred with diagnosis of leukocoria and possible retinoblastoma.
• This case highlights two important points in pediatric cases. First, it is important for pediatricians and pediatric ophthalmologists to perform adequate and careful screening of healthy children and to refer the patient to a retina specialist when there is any doubt to rule out any devastating disease. Second, it is equally important to study the whole case presentation and complete a full work-up for each patient to confirm the diagnosis.

Leukocoria in a 2-Year-Old Patient With Atypical Optic Nerve Fiber Layer Myelination. J Pediatr Ophthalmol Strabismus. 2020;57:e56-e58. Published 2020 Aug 19. doi:10.3928/01913913-20200527-02

Complex Combined Tractional and Rhegmatogenous Retinal Detachment in a Twenty-Three-Year-Old Male With Wagner Syndrome.

• Wagner syndrome is a rare hereditary vitreoretinopathy that has been reported in only about 300 people worldwide. It is caused by a mutation in the VCAN gene that encodes for the proteoglycan versican, which is a major component of the extracellular matrix of the vitreous gel; retinal detachment is uncommon in these cases.

• The authors report a case of a 23-year-old male who presented with bilateral combined tractional and rhegmatogenous retinal detachments, and who was treated surgically with good visual outcomes after treatment.

•  Genetic testing results reported a novel hetero missense variant in the VCAN gene, namely NM_004385.5:c.9265G>C (p.Gly3089Arg), which was consistent with a diagnosis of Wagner Syndrome.

Acón D, Hussain RM, Yannuzzi NA, Berrocal AM. Complex Combined Tractional and Rhegmatogenous Retinal Detachment in a Twenty-Three-Year-Old Male With Wagner Syndrome. Ophthalmic Surg Lasers Imaging Retina. 2020;51(8):467-471. doi:10.3928/23258160-20200804-07