Rare presentation of choroidal neovascularisation in a case of congenital hypertrophy of retinal pigment epithelium

A 22-year-old woman presented with a 2-week history of decreased vision, a central scotoma and metamorphopsia in her right eye. Her presenting visual acuity was 6/75 in the right eye and 6/6 in the left eye. Anterior segment examination was normal. Fundus examination of both eyes showed features of bilateral congenital hypertrophy of retinal pigment epithelium (CHRPE) lesions and choroidal neovascularisation (CNV) in the right eye. She was treated with intravitreal injection bevacizumab 1.25 mg/0.05 mL. One month later, there was regression of the CNV and subretinal fluid and her vision improved to 6/12. At the final follow-up visit, her vision was maintained at 6/9 with regression of CNV noted. To conclude, CNV is a rare association of CHRPE. It can lead to vision-threatening problem if it involves the macula and should be identified promptly and managed appropriately.

A PRPH2 gene variant detected in retinitis punctata albescens with congenital hypertrophy of the retinal pigment epithelium

Retinitis punctata albescens (RPA) is generally diagnosed by the presence of numerous clusters of white punctate lesions in the retina that progress over time and are related to several gene variants. The multifocal variant of congenital hypertrophy of the retinal pigment epithelium (CHRPE) is characterized by multiple, grouped, sharply circumscribed, pigmented spots. The PRPH2 gene encodes a photoreceptor-specific glycoprotein, which is essential for the morphogenesis of rod and cone photoreceptor outer segments. A 39-year-old Chinese female with nyctalopia, complained about blurred vision, presented a unique co-existing feature of RPA and CHRPE. Dilated fundus exam demonstrated numerous porcelain white discrete dots in both eyes and multiple, small, flat clusters of round brown to black pigmented lesions in the left eye. The full field electroretinography (ERG) showed decreased responses after standard dark adaptation and normal b-wave amplitudes after a long (4-h) dark-adapted period. A heterozygous PRPH2 splicing variant was detected in the proband. In addition, the same variant was found in her mother, her son, and her daughter. We describe a PRPH2 variant in a rare case of RPA associated with multifocal CHRPE of the same individual.

ADDITION

"Tarenetsky does not recognize the hypertrophy of the small lips and the lust for a racial sign and explains this anomaly by the early loss of their elasticity by the small lips; under the influence of this loss of elasticity, vicious habits and legalized custom, the form and size of these parts are changed. Admitting a heritable transmission, he considers the only racial difference to be the weak development in African and Australian women of large lips, why the pohotnik and small lips are more prominent in them. With congenital hypertrophy of the clitoris, which occurs much more often and is accompanied by hypertrophy of the small lips, the pohot takes a club-like shape and easily strains."

Optical Coherence Tomography Characteristics of the Choroid Underlying Congenital Hypertrophy of the Retinal Pigment Epithelium

Purpose: This study evaluates and characterizes the choroid underlying congenital hypertrophy of the retinal pigment epithelium (CHRPE). Methods: Retrospective observational study of CHRPE at least 2 mm in diameter. Choroidal vascular architecture was qualitatively examined. Choroidal thickness was measured by 2 independent observers using enhanced depth imaging spectral domain optical coherence tomography. Results: Forty-six eyes of 46 patients with CHRPE were included. Thirty-two lesions had imaging sufficient for analysis. Haller’s layer was healthy in 18 (56%), thin in 13 (41%), and absent in 1 (2%). Sattler’s layer was atrophic in 30 (94%), and choriocapillaris was atrophic in 31 (97%). CHRPE with thinned Haller’s layer had significantly larger diameter. The mean sub-CHRPE choroidal thickness was 82.4 ± 7.9 µm, compared to a thickness of 148.4 ± 9.6 µm in the normal adjacent choroid (p < 0.0001). Mean retinal thickness overlying the CHRPE was 77.3 ± 4.3 µm, compared to a retinal thickness of 137.8 ± 2.9 µm overlying the normal adjacent choroid (p < 0.0001). Sub-CHRPE choroidal thickness was a mean of 56.2 ± 3.1% of the adjacent normal choroidal thickness. Conclusion: The underlying choroid CHRPE is thinner than the adjacent normal choroid. All layers of the choroid can be thin with a preference of the inner Sattler’s and choriocapillaris layers.