Weekly case presentation

• 51 yrs ol female with gradual loss of vision since 1 month ago, with bcva 5/10 (ou)
• Anterior segment exam was unremarkable
• Trace vitreous cell

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Generally, AIR is classified into two groups:

• the non-paraneoplastic autoimmune retinopathy (npAIR)
• and paraneoplastic autoimmune retinopathy (pAIR).

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The pAIR is subclassified into cancer associated retinopathy (CAR) and melanoma associated retinopathy (MAR).

Circulating anti-retinal autoantibodies are believed to be the cause of AIR. A molecular mimicry-induced autoimmunity could provide the explanation for both npAIR and pAIR.

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• In npAIR, the mimicry might occur between the microbial antigen and retinal proteins, while in pAIR, the autoantibodies are raised against the tumor neoantigens, which show high similarity to the retinal self-antigens

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CAR (cancer-associated retinopathy) syndrome

CAR syndrome is most often associated with lung cancer(small cell pulmonary carcinoma), far in excess of gyneco-logical , thymic and more rarely colon, prostate, pancreatic ,bladder and hematologic cancers

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• manifests most often bilaterally, possibly asymmetrically, as profound visual loss progressing over a few days to several months.

• The symptoms are often striking and contrast with an initially normal clinical exam.

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• The symptomatology correlates with destruction of cones (photosensitivity, glare, visual loss, central scotoma, disturbed color vision) and rods (night blind-ness, peripheral visual field loss).

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• Photopsias (light flashes)are frequent.

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CAR (cancer-associated retinopathy) syndrome�

• The fundus examination may be initially normal, but one may observe periphlebitis or mild vitritis.

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• Later, there is arteriolar narrowing, a salt-and-pepper appearance, and optic atrophy as is seen in pigmentary retinopathy

• FAF hyperautofluorescent macular ring may be observed with hypo-autofluorescence around the ring.
• FA is most often normal or may show vascular diffusion.
• Vf show a peripheral defect and/or central scotoma

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• (ERG) is the key examination:

global dysfunction of the system of cones and rods, first affecting the a-wave then leading rapidly to a flat ERG .

• On (OCT), a loss of outer retinal structures is observed.

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The differential diagnosis is hereditary dystrophy, but this develops over a few years.

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Numerous antiretinal antibodies have been identified.

However, knowledge is still limited regarding their presence ,detection , specificity, role in the clinical signs and changes in their levels in response to treatment .

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MAR (melanoma-associated retinopathy)syndrome

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is an extremely rare syndrome .As opposed to CAR syndrome, the cancer is usually already known in MAR syn-drome.

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In the vast majority of cases, it is a cutaneous melanoma, more rarely a mucosal or intraocular melanoma

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The visual symptomatology is telling: photopsia-type visual hallucinations, sensation of color desaturation or conversely increased contrast, and bilateral peripheral vision loss.

MAR (melanoma-associated retinopathy)syndrome�

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Progression occurs typically over a few weeks or months, but may also be sudden.

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• The decrease in visual acuity is less pronounced than in CAR, with visual acuity remaining as good as 3/10.
• The fundus examination is relatively non-contributory, most often normal.

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The ERG is typical:

under scotopic conditions, there is a disappearance or micro-voltage of the b-wave , while the a-wave remains normal, signifying dysfunction of the bipolar cells and preservation of photoreceptor function

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OCT may reveal macular atrophy often associated with thinning of the inner retina.

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Fluorescein angiography is most often normal or may show vascular diffusion.

Recoverin is the first antibody detected and is most often implicated in patients with CAR syndrome

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• In the most advanced cases, one may observe optic disc pallor, attenuated vascular reflexes, zones of retinal pigment epithelialatrophy, a ‘‘salt-and-pepper’’ appearance, and vitritis with vasculitis as in CAR.

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The visual field, relatively non-specific,may show a central or paracentral scotoma or concentric constriction.

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Paraneoplastic vitelliform maculopathy

This very rare condition has only seen about 20 reported cases to date.

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The ocular involvement often precedesthe diagnosis of metastasis, in general associated with melanoma

On fundus examination, one or more yellow-orange vitelliform lesions are observed , sometimes accompanied by a serous retinal detachment which may take on the appearance of a pseudo-hypopyon.

Paraneoplastic vitelliform maculopathy�

Involvement is often bilateral . OCT shows vitelliform deposits on the retinal pigment epithelium elevating the neurosensory retina

On fluorescein angiography, the lesion has a blocking effect on the choroid, with late contrast

Paraneoplastic vitelliform maculopathy

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in a 58-year-old man with a history of metastatic cutaneous melanoma

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bilateral, multiple, subretinal, vitelliform lesions of the macula.

angiography demonstrated predominant blockage of

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D) infiltrates at the level of the RPE without associated SRF.

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FFA in a case of

Paraneoplastic vitelliform maculopathy

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Bilateral red-free fundus pseudofluoresence of the vitelliform lesions.

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complete blockage of the choroidal fluorescence

Bilateral diffuse uveal melanocytic proliferation

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This paraneoplastic syndrome, also very rare, usually pre-cedes the diagnosis of neoplasia or recurrence

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Itis a benign proliferation of uveal tract melanocytes.

The causative neoplasms are most often of genital origin in women (ovary, uterus, cervix) and pulmonary in men.

The bilateral visual loss is profound and rapidly progressive.

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• Gass et al. indicate the clinical elements of the diagnosis:

multiple discreet rounded red spots in the posterior pole, with early hyperfluorescence on angiography, diffuse thickening of the uveal tract with focal pigmented and non-pigmented tumors, exudative retinal detachment, and rapidly progressive cataract

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Bilateral diffuse uveal melanocytic proliferation

Bilateral diffuse uveal melanocytic proliferation

Bilateral diffuse uveal melanocytic proliferation

Diffuse uveal melanocytic proliferation (DUMP)

metastatic, small-cell lung carcinoma

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islands of atrophic retinal pigment epithelium separated by a reticular pattern of yellow-orange pigmentation in the left macula. early hyperflourescence consistent with RPE atrophy.

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C) B-scan ultrasound revealed extensive choroidal thickening of the affected left eye (arrowheads). D) OCT

Bilateral diffuse uveal melanocytic proliferation

Fundus photograph and FFA in a case of

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Bilateral red-free fundus photographs show pseudofluoresence of the vitelliform lesions.

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Bilateral fluorescein angiography images, late phase, demonstrate complete blockage of the choroidal fluorescence by the lesions

Autoimmune-related retinopathy and optic neuropathy

This entity was earlier known as steroid-responsive optic neuropathy .

There are a set of patients presenting with a typical profile that may hint towards the diagnosis of paraneoplastic retinopathy, but when worked up systematically, no diagnosis of malignancy is made.

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This group of patients is classified as ARRON, non-paraneoplastic autoimmune retinopathy, or recoverin associated retinopathy.

Patients are usually of 50 years age, with the male: female ratio of 1:2.

ARRON

The fundus examination reveals optic disk pallor.

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Antibodies have been found against the antigen which is found in optic nerve and retina ie 22-kDa, recoverin and a 35-kDa component of Muller cells. Adamus et al observed antibodies against a-enolase.

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• Corticosteroids are usually used as first line of drugs if no systemic illness is present. In addition to this, immunotherapies can be given in combination.

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ARRON

• Sensibly, is a diagnosis of exclusion established through systematic assessment and sometimes re-evaluation at potential times to rule out an underlying malignancy. Unexplained impairment of vision will also contribute to evidence of a paraneoplastic condition behind it.

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Disease progression of a patient with autoimmune retinopathy (AIR)

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The disease progression after five years is marked with RPE atrophy, progressive loss of EZ and ONL toward the fovea, more prominent slit cavitation in the INL, as marked by arrows, and accompanying choroidal thinning in the right (e) and left eye

Autoimmune-related retinopathy