Retinoblastoma and Retinitis pigmentosa

Retinoblastoma

Long arm of chromosome 13q-also osteogenic sarcoma.

Hereditary retinoblastoma

5% is inherited

Bilateral multiple and early onset.

Inherited pattern is AD.

Histopathology

Retinoblastoma is a tumour of photoreceptors.

Flurette is specific sign of Rb

Retinoblastoma is a very well differentiated tumour

It is highly radiosensitive

Most common site of metastasis is flatbones

Most common spread into CNS via Optic N

Most relevant investigation is MRI

If there is spread into orbit/extrascleral extn—>CT scan

Treatment:SALT-Serial aggregative Local therapy.

Vit D and Levamisole are radiosensitizers used in Rb.

When enucleation is done in Rb remove longest portion of optic N as possible.

Retinitis Pigmentosa

RP is a type of progressive retinal dystrophy, a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or nyctalopia (night blindness), followed by reduction of the peripheral visual field (known as tunnel vision) and, sometimes, loss of central vision late in the course of the disease.

Fundus of patient with retinitis pigmentosa, mid stage (Bone spicule-shaped pigment deposits are present in the mid periphery along with retinal atrophy, while the macula is preserved although with a peripheral ring of depigmentation. Retinal vessels are attenuated

  1. Floppy eyelid
  2. Keratoconus
  3. Myopia
  4. Primary open angle glaucoma
  5. Posterior subscapular cataract
  6. Posterior vitreous detachment
  7. Drusen of optin N head-Pseudo papilloedema
  8. Coats disease like appearance

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