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.
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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| # | Front | Back | Hint |
|---|---|---|---|
| 1 | What is retinitis pigmentosa and which part of the eye is primarily affected? | 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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