Retinitis Pigmentosa | Genetics, Pathophysiology, Signs & Symptoms, Diagnosis, Treatment

The video tutorial covers retinitis pigmentosa, a group of hereditary eye conditions causing degeneration of photoreceptors, primarily rods, leading to vision loss. It discusses genetic transmission modes, including autosomal recessive, dominant, and X-linked. The pathophysiology involves genetic mutations causing apoptosis in retinal cells. Symptoms include night blindness, tunnel vision, and photopsia. Diagnosis is through ophthalmological exams, and treatment is supportive, with some vitamin supplementation.

What is the primary effect of retinitis pigmentosa on the eye?

• Inflammation of the retina

• Degeneration of photoreceptors

• Increased intraocular pressure

• Swelling of the optic nerve

Which type of inheritance is most common in retinitis pigmentosa?

• X-linked

• Mitochondrial

• Autosomal recessive

• Autosomal dominant

What triggers apoptosis in the photoreceptor cells in retinitis pigmentosa?

• Physical trauma

• Bacterial infection

• Viral infection

• Genetic mutations

What is a characteristic diagnostic feature of retinitis pigmentosa?

• Presence of retinal hemorrhages

• Swelling of the optic nerve

• Increased retinal thickness

• Bony spicule-shaped melanin deposits

Which symptom is typically the first to appear in retinitis pigmentosa?

• Loss of central vision

• Decreased night vision

• Color blindness

• Photophobia

What is the term for the sensation of flashes of light in retinitis pigmentosa?

• Diplopia

• Scotoma

• Photophobia

• Photopsia

Which fundoscopic finding is NOT associated with retinitis pigmentosa?

• Retinal detachment

• Optic disc pallor

• Bony spicule pigmentation

• Arteriolar narrowing

What is the primary approach to managing retinitis pigmentosa?

• Antibiotic therapy

• Supportive care

• Surgical intervention

• Laser treatment

Which vitamin supplements are sometimes considered in retinitis pigmentosa management?

• Vitamins B12 and Folic Acid

• Vitamins A and E

• Vitamins B and C

• Vitamins D and K

Which genetic inheritance pattern is associated with a poorer prognosis in retinitis pigmentosa?

• Autosomal recessive

• Autosomal dominant

• Mitochondrial

• X-linked