皇家华人

The diagnosis for case 1:
Multiple evanescent white dot syndrome

• The wreath-like arrangements of punctate hyperfluorescence on the FA are confirmative of this diagnosis. Note the subtle findings wreaths on the color images. I included a peripheral shot for your interest. Not all show wreaths; some are just patchy. ICG angiography shows hypofluorescence of the lesions. See article accompanying this file for examples of ICG angio findings as well as the disease spectrum.
  
  
• Gass describes the macular findings as “tiny white or light orange dots in the center of the macula.” These are seen in the later stages of the condition. This case is the best example I have personally seen of this phenomenon. Note it can occur bilaterally and also have recurrences, reported by my mentors at MCW, Tom Aaberg et al. AIBSE is sometimes associated with it. A multifocal ERG is useful to show peripapillary retinal dysfunction in those cases. Full field ERG is transiently involved early on. It sometimes follows a viral syndrome.
  
  
• No treatment; it gets better on its own. (Several years ago, I had one patient with persistent, severe, symptoms lasting a few weeks (including the white dots) and I gave a short course of PO prednisone—gutsy—and he improved over the next few days. Pure anecdote. I ruled out infectious disease first, though. Avoid treating a patient with a truly uncertain condition with prednisone until you’ve done some screening—TB/syphilis especially; just my input). I included an article on MEWDS association with multifocal choroiditis.

Supporting Studies:

OCT (BIOPTIGEN) OD

OCT (BIOPTIGEN) OS

 RETCAM FA OD

 RETCAM FA OS

This patient was diagnosed to have neurofibromatosis Type 2 (NF2). The ocular lesion appeared to be an epiretinal membrane.

This case, its histopathology and clinical course was published in the Archives of Ophthalmology鈥攑lease see details in the article attached with this slide set that Dr. Simons and I coauthored with others. Diagnostic considerations are discussed in detail in the article.

鈥淚diopathic鈥� epiretinal membranes in a child should carry a suspicion of NF2. (See last paragraph of Kaye et al, attached). One study suggests that it may be one of the most common ocular manifestations of NF2鈥攁strocytic hamartomas and optic nerve gliomas notwithstanding! Lisch nodules seem to be more common in NF1 than NF2.

The paternal grandmother is presumed to have died of optic nerve gliomas, acoustic neuromas and other brain lesions, presumably multiple intracranial or brainstem hamartomas. This child faces the possibility of similar complications.

DDX shortlist for the ocular lesion seen: astrocytic hamartoma (a distinct possibility), combined retina-RPE hamartoma (also can be associated with NF2), epiretinal membrane (the correct answer to the ocular lesion), with a caveat that it might be hamartomatous (see article).

(Note: another condition classically associated with astrocytic hamartoma of the retina is tuberous sclerosis--a fact commonly tested on!)

To see how we managed this patient, please read the accompanying articles:

Patient History

• Prolonged, severe headaches, right-sided facial pain several weeks previously; evaluation for cerebral aneurysm negative
• Subsequently developed skin eruptions on right side of face in V1 distribution, subsequently developed 3rd nerve palsy, post-herpetic neuralgia, iridocyclitis, neurotrophic keratopathy RE: diagnosis of Trigeminal Herpes zoster made; managed with systemic acyclovir
• 7 weeks after skin eruptions, fundus examination noted to be normal OU; images seen here are a few months after that.

Tests

• Angiotensin converting enzyme: negative
• HLA A-29 negative

Herpes zoster ophthalmicus with choroidal vasculitis (short posterior ciliary arteries) leading to fundus depigmentation RE; aka HZO chorioretinopathy

Depigmented lesions appear months after the active episode of HZO

Appears uncommon relative to other manifestations of Herpes zoster ophthalmicus (Roberts, et al, 1995)

No treatment recommended specifically for the choroidal depigmentation at this stage of the condition, since inflammatory episode had resolved.

Supporting Studies:

DISC AND MACULA

FUNDUS PERIPHERY

OCT MACULA

The diagnosis for case 4:

• Pentosan Polysulfate Sodium (Elmiron/PPS) Retinal Toxicity
• Fundus Autofluorescence (FAF) imaging is considered optimal for diagnosis, detection and possibly follow-up of PPS toxicity due to its marked ability to demonstrate the RPE abnormalities in this condition.

This patient had been taking PPS for 10 years. Most cases of PPS retinal toxicity have exceeded 5 years of exposure. Fundus exam shows hyper- and hypopigmented spots; a macular bullseye is not typical.

A ”short list” DDx would include other medications causing retinal toxicity: phenothiazines, desferoxamine, hydroxychloroquine, chloroquine, etc. Pattern dystrophy, retinal degenerations, inflammatory or infectious conditions would be on a longer differential list for pigmentary retinopathy. FAF showing a hypofluorescent zone around the optic discs in PPS toxicity is said to distinguish it from various degenerative hereditary diseases (e.g., Stargardt/ABCA-related maculopathy).

For an excellent review of this condition, use this Survey of Ophthalmology article link on  See also imaging article (Dieu et al. 2022) that may accompany this presentation.