Retinitis pigmentosa

and

Night blindness syndromes

By Dr Anumeha

 Encompass diverse hereditary disorders

Affect the photoreceptors and retinal pigment epithelium (RPE) diffusely across the entire fundus

Epidemology and pathognesis:

Incidence: 1: 5000 Sex : M > F (slightly) Inheritence: Isolated sporadic- without Fam histcommon AD-best prognosis common AR- intermediate progno less common X linked- most sever form- least common Mutation of the rhudopsin gene Association with system dis which are AR Carrier for recessive state is 1: 100

Pathogenesis: Degeneration of retina with proliferation of adjacent retinal pigment epithelium. pigment deposits predominant in the peripheral retina and by a relative sparing of the central retina. In most of the cases of RP, there is a primary degeneration of the photoreceptor rods, with secondary degeneration of cones. Thus, the typical RP is also described as a rodcone dystrophy, photoreceptor rods being more affected than cones.

Clinical types of RP
1) non syndromic typical
atypical

2) syndromic with systemic assoc

Typical RP
Usually evolves over many years three stages: 1) Early : night blindness is main sympt may be periph visual defect in dim light V/A may be N or sub normal diagnosis is difficult Fundus changes may b normal with out bony specules and disc pallor visual field test: scotomas in scotopic vision color vision N ERG is the KEY test: dec amplitude of b- wave (but som times may be N)

2) Mid stage:
Night blindness is obvious Patients become aware of the loss in the peripheral visual field in day light conditions Dyschromatopsia to pale colors (particularly blue and yellows hues) is often present. photophobia, especially in presence of diffuse light (white cloudy weather). decreased visual acuity, diffi in reading due to macula involvement (macular edema or mild foveomacular atrophy Fundus examination: bone spicule-shaped pigment deposits in the mid periphery, atrophy of the retina. Narrowing of the retinal vessels is evident and the optic disc is moderately pale.

 ERG is usually unrecordable in scotopic conditions (rods) and the cone responses (30- Hz flickers, bright light) are markedly hypovolted. ( At this stage, evaluation of the rate of the disease progression,is mandatory.) visual field : mild periphery scotomas that tend to enlarge

towards extreme periphery and macular area.

Mid stage

3) End stage peripheral vision loss (classical tunnel vision), with few
degrees of remaining visual field around the fixation point. Photophobia is intense. Fundus examination: reveals widespread pigment deposits reaching the macular area. Vessels are thin and the optic disc has a waxy pallor

 The ERG is unrecordable. Fluorescein angiography detects chorioretinal atrophy in the periphery and also in the foveomacular area. As there is progression: central field vanishes so reading becomes impossible. Just Able to percieve light in peri vision

End stage

Other ocular associations: 1) Post sub cap cataract 2) Open angle glaucoma 3% 3) Vitreous changes 4) Myopia 5) Optic disc drusens more common than normal

Atypical RP
1) Retinitis punctata albescens: scattered white dots mostly at equator, sparring macula asso vascular attenuatn Pericentral RP: pig abnorm emanate from disc and extend along temp and nasal arcade Sector RP: involve one quadrent, slow progress, many cases r stationary RP with exudative vasculopathy

2)

3)

4)

Sector RP

Syndromic RP
Assoc with various syndromes 1) Usher synd: profound sensoneuri deafness with night blindness. Accounts for 5% of cases of RP develpos before puberty 2) bardet-biedl synd: obesity, mental retardation, polydactyly, hypogondism, renal dis, cardiac dis and HT Senior Loken syndrome: nephropathies Alports synd: deafness and progressive nephritis are associated with yellow flecks around the macula, rather than with an authentic RP.

3) 4)

5) Cohen syndrome : associates RP ,facial dysmorphism (prominent upper incisors) with short stature, mental retardation, long and narrow hands, and neutropenia.

6) Jeune syndrome: associates RP with a thoracic hypoplasia, brachydactyly and chronic nephritis.
7) Bietti's disease shows characteristic microcrystalline deposits in fundus and cornea. Patients undergo progressive RP evolving towards chorioretinal atrophy. 8) Abetalipoproteinemia (Bassen Korntzweig disease) is characterized by progressive ataxia, external ophthalmoplagia, reduction of plasma lipids and pigmentary retinopathy that resembles retinitis punctata albescens in some cases.

9) Infantile Refsum disease 10) Adult Refsum disease 11) Zellweger (cerebro-hepato-renal) syndrome. 12) Kearns- Sayre synd 13) Neuronal ceroid lipofuscinosis (also called Batten disease or amaurotic idiocies) 14) Joubert syndrome (JBTS) is a phenotypically

heterogenous syndrome that associates various central nervous system (CNS) developmental abnormalities including the so-called "molar tooth sign", cerebellar vermis hypoplasia and cerebral cortex defects, with renal cysts, and pigmentary retinopathy

Management
no therapy that stops the evolution of pigmentary retinopathies or restores the vision. Slowing down the degen process by: Light protection by dark glasses Vit therapy A n E (Vitamin A should not be given to RP patients with mutations in ABCA4 gene) T/t of the complications:

Cataract extraction t/t macular oedema

 New therapeutic strategies are emerging : gene therapy Neuroprotection retinal prosthesis

Syndromes associated with night blindness

Congenital Stationary Night Blindness:

Nonprogressive poor night vision present since birth. Classifications: Fundus: normal and abnormal appearance Visual functions: complete and incomplete
NORMAL FUNDUS

Inherited as AD, AS, X- linked recssive Because the clinical appearance of these eyes is normal, diagnosis is based on history and ancillary testing

ABNORMAL fundus: includes Oguchi's disease and fundus albipunctatus.

complete CSNB : no detectable rod function, slight reduction in cone function with DOV and myopia incomplete CSNB: some rod functions are preserved, more sever cone disfunction with DOV but no refrective error

Oguchi's Disease: Pathogenesis:

identification of a pigmented cellular layer interposed between the normal retinal pigment epithelium and photoreceptors, an abnormal layering of lipofuscin between the retinal pigment epithelium and photoreceptors, and abnormal numbers, arrangement, and structure of the cones

Diagnosis: The characteristic yellowish metallic sheen of the posterior pole. After prolonged dark adaptation the yellowish fundus appearance reverts to normal, Reexposure to light results in the return of the metallic sheen

yellowish metallic sheen of the fundus

after few hours in the dark adaptation the fundus reverts back to normal

Noble-Bass-Sherman syndrome Night blindness Ectopic lens Cataract Retinal detachment Myopia Impaired vision Abnormal pupils

Ghose-Sachdev-Kumar syndrome Also called as Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma Progressive vision loss Exotropia Angle closure glaucoma Night blindness Blurred vision Small eyes

OBAL syndrome severe malnutrition. The condition occurred frequently in soldiers, prisoners of war and people in concentration camps Malnutrition Amblyopia Retrobulbar neuritis Blind spot in vision Impaired color vision Night blindness Photophobia Edema Paresthesia Itching Hormonal disorders Skin eruption Cachexia Diarrhea Polyneuritis Impotence Enlarged male breasts Muscle wasting Fatigue Weakness

AMPOLA syndrome: rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities

Other causes include:

Bietti crystalline retinopathy Cataracts - degraded night vision Celiac disease Choroideremia Cystic fibrosis Diabetes Fleck retina of Kandori Hyperornithinemia Keratomalacia Macular degeneration Macular dystrophy, concentric annular Malabsorption - if it affects vitamin A absorption Mental retardation - hypocupremia - hypobetalipoproteinemia Neuraminidase deficiency