What is retinitis pigmentosa and which part of the eye is primarily affected?
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By mastering this deck, learners will understand the pathophysiology, clinical features, and management strategies of rare inherited eye disorders, enabling accurate diagnosis and tailored patient care in clinical practice.
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| 1 | What is retinitis pigmentosa and which part of the eye is primarily affected? |
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Genetic conditions affecting the eye, such as retinitis pigmentosa and aniridia, and their management.
Retinitis pigmentosa is a group of inherited retinal dystrophies characterized by progressive degeneration of the photoreceptor cells, primarily affecting the retina and leading to night blindness and peripheral vision loss. |
| Think of 'pigment' in the retina as the key affected structure. |
| 2 | Name a common genetic inheritance pattern seen in retinitis pigmentosa. | Autosomal dominant inheritance is common in retinitis pigmentosa, though autosomal recessive and X-linked patterns also occur. | Consider the most common inheritance pattern in familial retinal diseases. |
| 3 | What are the typical early clinical features of retinitis pigmentosa? | Early features include night blindness (nyctalopia), peripheral visual field constriction, and characteristic fundus changes such as bone-spicule pigmentation. | Think of 'night' and 'peripheral' for early symptoms. |
| 4 | Which gene mutation is most commonly associated with Leber congenital amaurosis? | Mutations in the RPE65 gene are most commonly associated with Leber congenital amaurosis, a severe early-onset retinal dystrophy. | Remember 'RPE' as retinal pigment epithelium-related. |
| 5 | What is aniridia, and which gene is most commonly mutated? | Aniridia is a congenital absence or severe hypoplasia of the iris, commonly caused by mutations in the PAX6 gene. | PAX6 is often called the 'master control' gene for eye development. |
| 6 | List two systemic conditions often associated with aniridia. | Wilms tumor (a kidney tumor) and anterior chamber abnormalities are associated; aniridia can also be linked to WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, and intellectual disability). | Think of 'WAGR' for associated systemic features. |
| 7 | What are the key features of Axenfeld-Rieger syndrome? | Features include iris hypoplasia, corectopia, corectopia, and developmental anomalies of the anterior chamber angle, often associated with glaucoma. | Remember 'A' for Anterior segment and 'R' for Rieger. |
| 8 | Which inherited disorder is characterized by bilateral clouding of the cornea and is often associated with systemic syndromes? | Congenital hereditary corneal dystrophies, such as congenital hereditary endothelial dystrophy, can present with bilateral corneal clouding and may be associated with systemic syndromes. | Think of 'cloudy cornea' as a hallmark. |
| 9 | What is Stargardt disease, and which mutation causes it? | Stargardt disease is a juvenile macular degeneration causing central vision loss, typically caused by mutations in the ABCA4 gene. | Remember 'Stargardt' as juvenile macular dystrophy. |
| 10 | Name an inherited disorder primarily affecting the optic nerve. | Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial disorder causing sudden, painless central vision loss in young adults. | Mitochondrial inheritance is key here. |
| 11 | How is retinitis pigmentosa typically diagnosed? | Diagnosis involves clinical examination, fundus photography showing bone-spicule pigmentation, electroretinography (ERG) showing reduced rod and cone responses, and genetic testing. | Think of ERG as the 'electrical test' of retinal function. |
| 12 | What management options are available for patients with retinitis pigmentosa? | Management includes low vision aids, vitamin A supplementation (with caution), genetic counseling, and emerging gene therapy treatments. | Focus on maximizing remaining vision and future therapies. |
| 13 | Which gene therapy is currently approved for Leber congenital amaurosis caused by RPE65 mutations? | Voretigene neparvovec (Luxturna) is an FDA-approved gene therapy for RPE65-related Leber congenital amaurosis. | Remember 'Luxturna' as the gene therapy for this condition. |
| 14 | What is the main difference between aniridia and iris coloboma? | Aniridia involves complete or near-complete absence of the iris due to PAX6 mutations, whereas iris coloboma is a congenital notch or gap in the iris often caused by incomplete closure of the embryonic fissure. | Think 'absence' versus 'notch'. |
| 15 | Which inherited eye disorder is associated with Wilms tumor and other systemic anomalies? | WAGR syndrome, which includes Wilms tumor, Aniridia, Genitourinary anomalies, and intellectual disability. | Use the mnemonic 'WAGR' to recall systemic associations. |
| 16 | Describe the typical progression of vision loss in retinitis pigmentosa. | Progressive peripheral visual field constriction starting with night blindness, eventually leading to tunnel vision and possible central vision loss in advanced stages. | Think of 'tunnel' vision as the endpoint. |
| 17 | What are the common histological features seen in eyes with aniridia? | Absent or hypoplastic iris tissue, with possible associated anterior chamber abnormalities and lens subluxation. | Recall 'hypoplastic iris' as a hallmark. |
| 18 | Which inherited disorder involves early-onset macular degeneration with flecks in the retina? | Stargardt disease, caused by ABCA4 mutations, manifests with characteristic yellowish flecks in the retina. | Flecks are a key feature. |
| 19 | What is the significance of PAX6 mutations in eye development? | Mutations in PAX6 disrupt eye morphogenesis, leading to conditions like aniridia and other anterior segment anomalies. | PAX6 as the 'master gene' for eye formation. |
| 20 | Name a genetic disorder that causes progressive optic atrophy and vision loss in young adults. | Leber hereditary optic neuropathy (LHON). | Mitochondrial inheritance pattern. |
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