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Clinical Skills Blogspot

Retinitis Pigmentosa

Title               

Ñ    Retinitis Pigmentosa

Definition

Ñ    Slowly progressive degenerative disease of the retina

Pathogenesis

Ñ    Genetic defect

Ñ    Heterogeneous genotype

Associations

Ñ    Lawrence-Moon-Biedl-Bardet syndrome:

Mental disability, polydactyl, syndactyly, hypogonadism, obesity, autosomal recessive

Ñ    Abetalipoproteinaemia:

Fat malabsorption, abetalipoproteinaemia, acanthocytosis, spinocerebellar ataxia

Ñ    Refsum’s disease:

Deafness, peripheral neuropathy, cerebellar ataxia, raised CSF protein, icthyosis

Ñ    Kearns-Sayre syndrome:

Retinitis pigmentosa, external ophthalmoplegia, heart block

Ñ    Usher’s disease:

Sensorineural deafness

Ñ    Friedrich’s ataxia

Pathological Process

Ñ    Degeneration of rods and cones

Ñ    Rods > cones

Clinical Features

History

Age

Ñ    Young adulthood

Sex

Ñ    Slight excess of males due to X-linked types

CNS

Ñ    Night blindness

Ñ    Visual loss

Family History

Ñ    Careful family history should be taken

Examination

CNS

Ñ    Decreased visual acuity

Ñ    Cataracts:

Posterior subcapsular

Ñ    Ophthalmoscopy:

·          Pigmentation:

Looks like bone spicules

·          Pallor of disc

·          Arteriolar attenuation

Ñ    Afferent pupillary defect

Investigations

Fluids

Blood

Genetics

Ñ    Genotyping

Electrophysiology

Electroretinogram

Ñ    Objective measure of rod and cone function

Electro-occulogram

Ñ    Abnormal when electroretinogram is abnormal

Physiological studies

Formal Visual Field

Ñ    Progressive loss of peripheral vision

Management

Support

Lifestyle Adjustments

Ñ    Genetic counselling

Ñ    Job training

Staffing

Ñ    Vision training

Equipment

Ñ    Aids to activities of daily living

Residence

Ñ    Adaptations to house to aid daily living

Prevention

Lifestyle Adjustments

Ñ    Genetic counselling

Prognosis

Ñ    Progressive loss of vision

 

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