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Congenital defects arising from failure of fetal fissure closure in embryogenesis

Mostly unilateral. 10-15% bilateral

No gender predilection


PATHOPHYSIOLOGY:

-Occur due to incomplete closure of the optic fissure resulting in a micro-communication between the subarachnoid space and the pit.

-Communication of optic pits and Cerebral Spinal Fluid (CSF) is controversial and Beta-2 Transferrin levels (found in CSF) of submacular fluid associated with optic pits has been variable.

-Histologically, there is herniation of a dysplastic retina into the subarachnoid space through a defect in the lamina cribrosa at the pit.



SYMPTOMS:


-Usually asymptomatic.

-Found on routine examination incidentally.

-Patients may complain of metamorphopsia, micropsia, blurred or decreased vision, or a blind spot if the optic pit is associated with a serous detachment.


SIGNS:

-Usually found inferotemporally within the nerve, ⅓ are central.

-Appear as a round or oval depression that differs in colour from the surrounding disc (grey, yellow or black).

-Colour variation depends on the amount and location of glial tissue in the pit.

-Size can vary from 0.1-0.7 disc diameters and depth from 0.3-0.5 diopters.

-Associated macular edema, serous macular detachment; schisis or pigmentary changes in the macula.

-Shallow serous macular detachments can be seen in upto ¾ eyes with inferotemporal pits

-Source of the retinal fluid in optic disc pit maculopathy is controversial; the reports in literature describe it to be vitreous, cerebrospinal fluid, and even in some cases fluid from blood vessels in the pit.


INVESTIGATIONS:

-OCT: to determine if trace amounts of subretinal fluid is seen, can show schisis-like separation between inner and outer retina.

-Visual fields – Enlarged blind spot, arcuate scotomas .

-Amsler grid can be used to monitor the onset of macular involvement of an optic pit with serous detachment.


MANAGEMENT:

-No medical therapy indicated unless it is associated with optic disc maculopathy


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SYMPTOMS:

•Metamorphopsia and micropsia

•Blurred vision

•Impaired dark adaptation

•Colour desaturation


CHRONIC CSCR:

•Diffuse retinal pigment epitheliopathy that progresses in conjunction with persistent or intermittent presence of subretinal fluid.

•The retinal detachments tend to be shallow and more diffuse than in the classic form.

•Cystic intraretinal changes can occur late in the presence of chronic subretinal fluid.


RISK FACTORS:

Systemic:

•Type A personality

•Stress

•Hypertension

•Pregnancy

•SLE

•GERD

•Tobacco/Alcohol use

•Autoimmune disorders


Medications:

•Corticosteroids

•Sympathomimetics

•Sildenafil

•Antihistamines

•Psychopharmacologic medication


MECHANISM OF ACTION:

-Abnormal choroidal circulation

-Localised capillary/venous congestion leads to impairment of circulation causing ischemia.

-This causes increased choroidal exudation, hyperpermeable choroid leading to excess choroidal fluid accumulation causing RPED.

-As detachment increases, target junctions between RPE are broken, focal defect of BRB develops.

-Choroidal fluid passes through causing neural RD.


DIAGNOSIS:

•Fundus Examination: a translucence in the posterior pole between the neural retina and the RPE is seen.

•OCT: hyperreflective dots consistent with punctate precipitates and white material within the serous retinal detachment just under the retina.

•FFA: dye from the choroid leaks through a focal RPE defect and pools in the sub- retinal space.

•Ink blot sign: leaking small PED.

-Smoke stack sign: the PED has a focal defect in the overlying RPE and the dye streams out of this defect into the surrounding subretinal fluid.

•ICG: bilateral multifocal hyperfluorescent areas during the midphase.


Treatment

•Discontinue Corticosteroids

•Mineralocorticoid antagonists and Rifampin

•Laser Photocoagulation

•Photodynamic Therapy


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