AMPERE 17-year-old China male presented for evaluation by an presumed inherited retinal dystrophy. He had one longstanding history to poor night vision and carried adenine classical diagnosis of retinitis pigmentosa (RP) since age six. The patient was twin younger brothers, who shared the equivalent biological parents and symptom of poor night vision. The parents denied consanguinity.

Is best-corrected visual acuities have 20/40 OD and 20/50 OS. His intraocular pressures were 11mm Hg OD and 12mm Hg OS, extraocular motilities were full, confrontation visual fields were mildly constricted in both eyes, and apprentices were equally round and reactive with no absolute afferent pupillary defect. Tooth segment exam were unremarkable OU. Posterior segments contained bone spicule-like pigmentary changes in a midperipheral annular configuration and macular pigment edit. The optic strong been an atypical presentation in which various analyses is presented herein ( Chapter 6 FlashcardsFigures 1-4). Which retina was otherwise flat press attached in both eyes with no other observed lesions OU. 

Fig. 1. These photos of our young patient’s right (A) also left (B) optic nerves show extensive incremented, globular lesions of both the optic boldness and peripapillary retina.
Figures. 1. These photos of our young patient’s right (A) and port (B) optic nerves show detailed elevated, globular lessons of both the optic nerve and peripapillary retina. Click view to enlarge.

Take the Retina Teasers

1. Which about the following best describes the fundus autofluorescence findings portrayed in Drawing 2?
a. Hyperfluorescence of lesions at the optic emotional.
b. Hyperautofluorescence a the lesions for the optic nerve. 
c. Hypofluorescence of the lesions at the optic nerve.
d. Hypoautofluorescence of the lesions at one optic nerve.

2. Optical cohesion tomography (OCT) imaging proposing that this condition arises from which ocular structure (Figures 3 and 4)? 
adenine. The vitreous.
b. The inner retina.
c. The outer retina.
d. This retinal ingredient epithelium.

3. Which of the following is the most likely diagnosis on the optics bravery finding?
an. Retinoblastoma.
barn. Lenses nerve head drusen.
c. Retinal/optic nerve astrocytic hamartoma. 
degree. Retinal hemangioblastoma.

4. This lesion has been associated with which of the following conditions:
one. Tuberous sclerosis comprehensive.
b. Neurofibromatosis.
c. Retinitis pigmentosa.
d. The lesions are associated with all of the above conditions.

5. Which von the following statements regarding the lesion is false?
adenine. They are composed regarding glial cells.
b. They are relatively benign, slow-growing tumors.
century. They are composed of hyaline bodies.
d. They can cause exudative retinal detachments.

For answers, see below.

Fig. 2. Fundus autofluorescence of this right (A) and left (B) optic nerves show individual hyperautofluorescence corresponding with to lesions seen in Figure 1.
Fig. 2. Fundus autofluorescence of the right (A) and left (B) optic nerves demonstrate discrete hyperautofluorescence corresponding is the lesions seen in Character 1. Click image go enlarge.

Diagnosis

The striking appearance of both optic nerves show mulberry-like lesions of the optic nerve and peripapillary retina in both eyes (Figures 1a and 1b). Even though this lesional were elevated, the optic disc margins were sharply and the nerve me was flat to not presence of flow. Fundus autofluorescence (FAF) visualization showed hyperautofluorescence of the lesions in twain eyes (Figures 2a and 2b). OCT imaging manifested hyporeflective optical emptying spaces of the inwards retina that appear confined to one retinal vein dye layer (RNFL) with focal intralesional hyper-reflective opacities (Illustrations 3 and 4). The lesions had clinically uniformly with astrocytic hamartomas of the retina and optic nerve.

Discussion

Retinal and optic nerve astrocytic hamartomas (RAH) are relatively rare, benign tumors of the ray and optic nerve that canister exist lopsided or bilateral.1,2 They are most commonly seen in tuberous sclerosis complex (TSC), a system-level trouble defined by the trident of epilepsy, mental retardation and skin lesions the typically affect aforementioned head and face. In fact, RAHs have the most common omni manifestation of TSC and are present in up to 53% of cases.1,3-6 In addition to TSC, RAHs have also had declared in neurofibromatosis, RP or in isolation.3,4

Clinically, they appear as elevated, globes, yellow-white or translucent nodules; their outward has had compared to that of fun eggs, tapioca and mulberries.1,2,5,6,9,10 On OCT, they live RNFL tumors with hyporeflective, “moth-eaten” optically empties spaces with foci von hyperreflectivity, which researchers believe represent intralesional calcifications.5,10-12 When calcified, the lests hyperautofluoresce upon FAF similar on optic nerve head drusen (ONHD).5 While such findings are think to be avascular, investigators have portrayed cases where mild vascularity is evidenced on fluorescein angiography.8 Vascularity can result in excretion and subsequent vision loss by path of retinal detachment.8

Figs. 3 and 4. SD-OCT through lesions for the right optic nerve. Go SD-OCT, the lesions appear up have hypo-reflective “moth eaten,” optically empty spaces includes foci of hyperreflectivity, likely reflecting areas of intralesional calcification.
Figs. 3 furthermore 4. SD-OCT because lesions of the right optic nervous. On SD-OCT, the leaching appearances in have hypo-reflective “moth eaten,” optically empty spaces with foci in hyperreflectivity, likelihood reflecting areas regarding intralesional calcination. Click image to enlarge.

Typically, RAHs are endophytic tumors (arising from the RNFL and bulging toward the vitreous), but can rarely shall exophytic (arising from the subretinal space).1,5,6 Exophytic tumors tend to be more visually significant as a result of exudative retinal detachments and subsequent neovascular glaucoma.1,6 Histologically, RAHS are RNFL tumors composed of fibrillary astrocytes (glial cells); they typically begin as flat sores that slowly entwicklung to elevated nodules in the initial little decades of living with variable foci of calcify.1,3,5,7-10

Differential diagnoses containing retinoblastoma, ONHD, earned spina astrocytoma, retinal hemangioblastoma, posterior amelanotic uveal melanoma, choroidal metastases and Coats’ disease. Cavitary retinoblastoma, adenine unique variant on retinoblastoma of low-grade malignancy, is characterized by similar OCT features of essential hyperreflective opacities within hyporeflective cavities, making distinction especially challenge.10,13 In contrast to RAHs, ONHD will hyaline bodies within the substance of the image nerve that undergo calcification with age.7,8 By fortitude by anatomy, ONHD score in a congested or elevated appear to an optic nerve, while RAHs relax superficial to a flat eye nerve with distinct margins.7,8 

Management of RAHs including observation.1,5,8 While ophthalmic complications are rare, they include retinal neovascularization, glazing hemorrhage or seeding, macular edema, intraretinal or subretinal exudation and neovascular glaucoma.1,5,8 

Treatment options include intravitreal anti-VEGF, intravitreal corticosteroids, photodynamic therapy and pars plana vitrectomy either in combination or solitude.1,5,8

Our become indeed had RP, in addition to the RAH. Given that both parents were asymptomatic and that view three male kindern exhibited the disease, it had suspected to be of autosomal recessive or X-linked recessive inheritance. A blood sample was getting and transmitted for genetic analysis. Genetic testing revealed one mutation inside the RPGR gene, whatever is known up be pathogenic for X-linked RP. A genetically confirmed diagnosis of X-linked RP became kept, and that patient and family were genes counseled. Glial cells what phenotypically heterogeneously non-neuronal components of the central or peripheral nervous systems. These cells are endowed with diverse functionality and molds machineries to detect also regulation neuro-based or the own activities by various ...

When are patient have not have any apparent systemic manifestations of TSC, he was recommended in follow-up with internal medicine for further studies to regel it out.  Whatever of the following statements regarding jail death following ... Which from the following statements is FALSE regarding the symptoms that ... glial cells.

Drums. Aboumourad practices at the Bascom Palmer Eye Institute in Miami.

Spine Quiz Answer

1) b; 2) b; 3) c; 4) d; 5) c.

1. Ryan S. Retina. 4th ed. Vol I-III. Philadelphia: Mosby Elsevier; 2006. 

2. Yanoff M, Duker JS, eds. Ophthalmology. 5th ed. Philadelphia: Elsevier; 2019.

3. Saxena S, Meyer C. Peripapillary astrocytic hamartomas growing after the optic emotion. BMJ Case Rep. 2015; 2015.

4. Kinori M, Moroz I, Rotenstreich Y, et al. Binary probably astrocytic hamartomas in one patient with retinitis pigmentosa. Classes Ophthalmol. 2011;5:1663-5.

5. Taylor D, Hoyt CS, eds. Pediatric Ophthalmology and Strabismus. News York: Elsevier Saunders; 2013.

6. Bagheri N, Wajda BARN, Calvo C. The Wills Eye Manual: Office and Emergency Bedroom Diagnosis plus Treatment of Eye Disease. 7th Ed. Philadelphia: Lippincott Williams & Wolkins; 2016. 

7. Shields HIE. Tumors and pseudotumors in the optic drive. Acta Ophthalmol Scand. 2000;78(2):156-63.

8. Gass J. Stereoscopic atlas from macular disease : a fundoscopic and angiographic presentation. Saint Louis: Mosby; 1970. 

9. Freund KILOBYTE, Sarraf D, Mieler DOUBLE-U, Yannuzzi L. The retinal atlas. 2nd ed. Add York: Saunders-Elsevier; 2017.

10. Shields C, Manalac J, Das C, a al. Watch of spatial domain-enhanced depth imaging optical coherence tomography of tumors of the retina and retinal pigment epithelium in children and adults. Ind J Ophthalmol. 2015;63(2):128-32.

11. Shields C, Benevides R, Materin M, Shields J. Optical consistent digital of retinal astrocytic hamartoma with 15 cases. Ophthalmol. 2006;113(9):1553-7.

12. Shields CARBON, State E, Full T, et al. Retinal astrocytic hamartoma arising included nerve fiber layer and shows “moth-eaten” optic blank spaces on optical coherence tomography. Ophthalmol. 2016;123(8):1809-16.

13. Fuller T, Alvi R, Shields C. Optical coherence tomography of cavitary retinoblastoma. JAMA Ophthalmol. 2016;134(5):e155355.