Coincidental retinal dysplasia in patients presenting with pseudohypopyon: a series of two cases.

Clinical diagnosis is always challenging in cases with atypical presentation. Herein, we present two cases which masqueraded as ocular infection/inflammation on presentation, were clinically suspicious for retinoblastoma, and histopathology revealed the diagnosis of retinal dysplasia. Case 1 had left corneal perforation with anterior chamber exudates on presentation. On ultrasound B-scan, ill-defined mass was noted, raising a suspicion of malignancy. MRI showed dilated ventricles with midline shift. Vitreous cytology was inconclusive. Enucleation was performed as malignancy could not be ruled out. Histopathology revealed detached retina with dysplastic rosettes in addition to inflammation and multinucleate giant cell reaction. Case 2 presented with right eye anterior chamber pseudohypopyon. Fundus examination revealed diffuse vitreous haze and a suspicious mass in the retinal periphery raising suspicion for retinoblastoma. Histopathology revealed the diagnosis of retinal dysplasia.

Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis.

OBJECTIVE: To report the first case of prophylactic laser treatment to prevent blindness in a patient who was diagnosed with Norrie's disease by genetic testing with amniocentesis. DESIGN: Case report. PARTICIPANTS: A 2-year-old white boy with Norrie's disease. METHODS: A 37-week gestational age male with a family history of Norrie's disease was born via Cesarean section after the mother had undergone prenatal amniocentesis fetal-genetic testing at 23 weeks of gestation. A C520T (nonsense) mutation was found in the Norrie's disease gene. After examination under anesthesia confirmed the diagnosis on the first day of life, laser photocoagulation was applied to the avascular retina bilaterally. The patient was followed closely by ophthalmology, pediatrics, and occupational therapy departments. MAIN OUTCOME MEASURES: Functional outcome, as documented by Teller visual acuity and formal occupational therapy testing, and anatomic outcome, as documented by Retcam photography and fluorescein angiography. RESULTS: Complete regression of extraretinal fibrovascular proliferation was observed 1 month after laser treatment. No retinal detachment had occurred to date at 24 months. Teller visual acuity at 23 months of life was 20/100 in both eyes. The patient's vision and developmental milestones were age appropriate. CONCLUSIONS: Pre-term genetic diagnosis with immediate laser treatment after birth may preserve vision in individuals affected with Norrie's disease.

Early vitrectomy effective for Norrie disease.

OBJECTIVE: To review our experience with Norrie disease to determine if early vitrectomy abrogates the natural history of this rare disease; namely, bilateral no light perception visual acuity and phthisis bulbi. METHODS: We retrospectively reviewed the medical records of all patients seen in our tertiary care pediatric retinal clinical practice from 1988 through 2008 with a potential diagnosis of Norrie disease. Inclusion required not only clinical findings consistent with Norrie disease but also genetics and/or a family history consistent with Norrie disease. RESULTS: Medical record review revealed 14 boys with clinically diagnosed Norrie disease and either Norrie disease gene (NDP) mutations noted on genetic testing (13 patients) and/or a clear family history consistent with Norrie disease (4 patients). All 14 boys with definite Norrie disease had vitrectomy with or without lensectomy in at least 1 eye prior to 12 months of age. Of the 14 boys with definite Norrie disease, 7 maintained at least light perception visual acuity in 1 eye and 3 had no light perception visual acuity bilaterally; visual acuity data were not available for 4 patients. Only 2 of 24 (8%) eyes became phthisical. CONCLUSIONS: Historically, no treatment has been offered to mitigate the dismal natural history of Norrie disease. We recommend consideration of early vitrectomy in Norrie disease.

[Giant-cell retinal dysplasia in microphthalmos]. / Displazie retiniana cu celule gigante în microftalmie.

Six-year-old girl presents unilateral moderate microphthalmos. After enucleation ocular histopathological exam shows multiple ocular structures anomalies at both anterior and posterior poles; the most important anomalies were localised at the level of retina, vitreous, and iridocorneal angle, and they were represented by retinal dysplasia with giant cells, persistence of the primitive vitreous, congenital cataract, Rieger syndrome.

[A case of Stickler's syndrome]. / Przypadek zespolu Stickler'a.

The authors presented a case of Stickler's syndrome diagnosed in 56-year-old woman referred to the clinic because of cataract in both eyes. After surgery typical vitreo-retinal changes mainly extensive lattice degenerations, pigmentary lesions and preretinal membranes in vitreous were found. Orofacial and musculoskeletal abnormalities confirmed diagnosis.

[The Reese syndrome. Anatomicoclinical and therapeutic considerations]. / Sindromul Reese. Consideratii anatomoclinice si terapeutice.

The paper presents two clinical cases of complex iridocorneal disgenesis with glaucoma and ectodermal anomalies followed for a period of several years. The cases underwent antiglaucomatous surgery that afforded a good visual preservation and an optimum intraocular pressure.