Emerging Sources Citation Index (ESCI), The Web of Science Edition, herein reports a case first recognized in a two-day-old newborn with a decreased red reflex in her right eye. The patient was eventually diagnosed with unilateral retinal detachment that could not be repaired.

A Complicated Diagnosis at an Early Age

The baby was born full-term, and her mother’s pregnancy had been uneventful. No one in her family had a history of ocular disorders.

At three weeks old, the baby was again examined under anesthesia, revealing a collection of blood behind the lens of the right eye. The doctors found that the retina was significantly abnormal. Retinal dysplasia, usually nonprogressive, was assigned as an initial diagnosis. Data describing the disease are sparse.

Retinal dysplasia is recognized by the round clumps (folds) of the retinal tissue. There are several probable causes such as genetic defects, vitamin A deficiency, viral infections, or drugs.

The baby’s mother agreed to a lensectomy, which is a mono-focal lens that allows clear vision but only at one point of focus. A vitrectomy was also performed clearing the vitreous hemorrhage around the eye.

The baby was examined again in her third and fourth month, but no treatment was put forth until her fifth month when she was readmitted with inflammation in her right eye and no light perception.

Upon examination, the right eye’s intraocular pressure was high and was kept under control with atropine, prednisolone, timolol, and latanoprost. The child’s mother was not in favor of surgery at this time, but she did consent to continued monitoring.

Within four months, a round mass was discovered on the optic nerve of the right eye possibly representing retinal dysplasia. Enucleation, (removal of the eye), was recommended. However, the child’s mother ruled out surgery.

At age four, the child began to experience pain in her right eye. At this point, the child’s mother agreed to enucleation. This type of surgery leaves the eye muscles intact. It is recommended for various ocular tumors, if eyes have had trauma, or as in this case, if the eye is blind and painful.

The patient’s surgery went well with no complications. The child received a prosthetic eye and has since met each of her developmental milestones in good health. To date, the left eye has shown no evidence of any retinal abnormalities.

Pathology

Pathology showed that the retina was detached and folded. The doctors were unable to confirm a diagnosis of familial exudative vitreoretinopathy (FEVR) through genetic testing or other clinical evidence. However, they relied on pathologic findings which they felt had FEVR characteristics.

About FEVR

FEVR is a rare disorder that develops before birth. It is inheritable. The disease leads to:

• Ischemia – inadequate blood supply to an organ
• Retinal folds
• Hemorrhage
• Vessel dragging – involving detachment of the retina
• Retinal detachments
• Neovascularization – the natural formation of new blood vessels

Mutations in five targeted genes account for fifty percent of FEVR cases. (LRP5, ZNF408, FZD4, TSPAN12, and NDP). Neither the patient nor her family has a history of FEVR. Although her father was not available for examination, her mother’s examination did not reveal retinal pathology.

A classical feature of severe FEVR as seen in the case described herein is progression to a radial fold in the retina.

Yet to the knowledge of the authors, there have been no other cases published of a detached retina that was tightly folded into a mass. (The complete article is available here.)