MCW Eye reVIEW Retina Quizzes

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:
Acute Idiopathic Blind Spot Enlargement

Multiple evanescent white dot syndrome in patients with multifocal choroiditis

OCT (BIOPTIGEN) OD

OCT (BIOPTIGEN) OS

 RETCAM FA OD

 RETCAM FA OS

The diagnosis for Case 2:

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—please 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.

“Idiopathic” 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—astrocytic 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:
Surgical Removal of an Atypical Macular Epiretinal Membrane in Neurofibromatosis Type 2: Clinicopathologic Correlation and Visual Outcome

Ocular findings associated with neurofibromatosis type II

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

The diagnosis for Case 3:

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:

A New Fundus Finding in Patients With Zoster Ophthalmicus

Multifocal chorioretinal atrophy associated with herpes zoster ophthalmicus

Unilateral multifocal chorioretinopathy a clue to herpes zoster ophthalmicus

Herpes zoster chorioretinopathy

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 Pentosan polysulfate maculopathy. See also imaging article (Dieu et al. 2022) that may accompany this presentation.

The diagnosis for Case 5:

Subacute bacterial endocarditis with premacular hemorrhage OD--variants of the ”Roth spot” OU

• This patient had a history of mitral valve insufficiency. Upon hearing her history of fevers, and seeing her fundi, I drew three sets of blood cultures from her on the spot. All three were positive for S. viridans, supportive of a diagnosis of subacute bacterial endocarditis. She did well after a course of IV penicillin and gentamicin. (see slides to follow).
• This woman came to me about 15 years later (around 2015), not as a patient, but bringing a friend for an eye exam, and thanked us for saving her life. I ran into her just a few feet from where I drew her cultures, on the 2nd floor at the EI.
• The lesson here is that the “white centered hemorrhages” associated with SBE can vary in appearance. Here, in the right eye, the hemorrhagic component predominated over the white areas. In the left eye the “white center” had only a very small hemorrhage.
• We thought the case was unusual enough that Dr. Judy Kim and I published it. The article accompanies this file. See this patient’s course and other examples of Roth spots to follow.

Supporting Study:

Premacular Hemorrhage as a Sign of Subacute Bacterial Endocarditis

Diagnosis Follow Up:

Two and a half Months later after course of intravenous PCN for streptococcus viridans subacute bacterial endocarditis
VA OD 20/25 OS 20/20

Macular SD-OCT showing schitic cavities in XLRS:

Right Eye Left Eye

Diagnosis for Case 6:

Juvenile X-Linked Retinoschisis

• X-linked recessive condition
• RS1 gene on distal short arm of X chromosome (Xp22); over 125 mutations identified
• Abnormality of retinoschisin, a protein synthesized by bipolar cells with homology to proteins involved in cellular adhesion and signaling

The diagnosis for Case 7:

The differential diagnosis should include primary or secondary vasoproliferative tumor of the retina.

• Color photos show a faint yellow lesion (tumor) surrounded by lipid exudates of a chronic nature; its location in the inferotemporal quadrant is a common feature of this condition
• Note the overlying telangiectasia and dilated feeder vessels. The latter are not as prominent as one would see in a Von Hippel angioma, but should be of diagnostic value in identifying this condition. Somewhat dilated feeder vessels occur in a moderate proportion of patients with primary vasoproliferative tumors of the retina
• The location in the inferotemporal quadrant distinguishes this from Coats disease, which is more often temporal or superotemporal

Differential Diagnosis

• Vasoproliferative tumor of the retina (primary or secondary)
• Primary or idiopathic lesions were previously called “presumed acquired retinal hemangioma (Shields et al),” “hemangioma like masses of the retina,” “peripheral retinal angioma with exudative retinopathy in adults” (Henkind & Morgan)]
• Primary tumors associated with older age compared to secondary tumors
• See accompanying article by Shields et al. “Retinal Vasoproliferative Tumors: Comparative Clinical Features of Primary vs Secondary Tumors in 334 Cases”
• Secondary vasoproliferative tumors

Retinitis pigmentosa
Pars planitis
Coats disease

• Other

VHL: capillary hemangioma
Peripheral proliferative retinopathies (PDR, Sickle Cell, ROP, FEVR)

Patient Workup

• MRI of brain - nl
• Abdominal ultrasound - nl
• Urine specimen – insufficient for VMA’s metanephrines
• ULS – 1-2 mm height, difficult to access reflectivity
  At presentation: 1.6mm
  7 months later: 2.1mm

Clinical Course

• 1 month after presentation – laser to hole
• 3 months after presentation
  VA remained 20/20
  Small amount of preretinal hemorrhage
  Exudate same
  To RV referring in 2 mo, to retina specialist in 4mo
• 7 months after presentation: Growth development to 2.1mm height, photos obtained. Increased exudation towards macula noted. Cryo placed triple – freeze thaw with shrinkage of lesion and reduction of exudates.
• Note: Extensive cryotherapy may have late morbidity such as CME; More recently, PDT has been used for treatment of this condition when it threatens visual loss (exudation)

Supporting Study:

Retinal Vasoproliferative Tumors

The diagnosis for Case 8:

• Toxoplasmic retinochoroiditis.   
• Important Diagnostic Clue: This is primarily a retinal opacity that is adjacent to a pigmented chorioretinal scar. (This finding is most noticeable on the 2nd image of the fundus.) Note: Viral retinitis (ARN) is also known to recur at margins of previous involvement, but is usually more peripheral in location.
• This patient underwent oral antitoxoplasmic therapy but was eventually lost to follow-up.  A set of stereo photographs taken after treatment initiation shows what may be partial regression over a number of weeks with persistent vitreous opacities. (Try converging your eyes until you see three images and concentrate on fusing the middle one.)