Retinitis Pigmentosa

A 28-year-old man from rural Maharashtra presents with progressive night blindness for the past 3 years, followed by gradual constriction of his visual fields. On examination, visual acuity is 6/9 in both eyes. Fundoscopy reveals bone spicule-like pigmentation in the mid-periphery of the retina, attenuated retinal vessels, and a pale optic disc. Electroretinography (ERG) shows reduced amplitudes with relatively preserved central responses. The patient's father had similar symptoms starting in his 20s. What is the most likely diagnosis?

A 35-year-old woman with a 10-year history of retinitis pigmentosa presents to the clinic for management counselling. She is concerned about her future vision and asks about treatment options. She has no systemic symptoms and genetic testing has not been performed. Her current visual acuity is 6/12 OU and visual fields show concentric constriction to 20 degrees. Which of the following is the most appropriate next step in management?

A 28-year-old man from rural Maharashtra presents with progressive night blindness for the past 3 years, followed by gradual constriction of his visual fields. On examination, his best-corrected visual acuity is 6/9 in both eyes. Fundoscopy reveals bone spicule-like pigmentation in the mid-periphery, attenuated retinal vessels, and a waxy optic disc pallor. His younger sister has similar symptoms. Electroretinography (ERG) shows a markedly reduced or extinguished response. What is the most likely diagnosis?

A 35-year-old woman with a known diagnosis of Retinitis Pigmentosa presents to the clinic complaining of recent onset central vision loss and metamorphopsia. Visual acuity has declined from 6/6 to 6/18 over the past 6 months. Optical coherence tomography (OCT) of the macula reveals a full-thickness macular hole. Which of the following is the most appropriate next step in management?

A 35-year-old woman with a family history of blindness (her father and paternal uncle both lost vision by age 50) presents with a 5-year history of difficulty navigating in dim light and reading small print. Best-corrected visual acuity is 6/12 OU. Fundoscopy shows mild bone spicule pigmentation in the periphery, normal optic disc, and normal retinal vessels. Optical coherence tomography (OCT) reveals mild disruption of the photoreceptor layer in the macula. Genetic testing identifies a heterozygous mutation in the PRPH2 gene. What is the most likely inheritance pattern and prognosis in this patient?