Optic Pit Maculopathy

Optic pits are small, hypopigmented, yellow or whitish, oval or round, excavated colobomatous defects of the optic nerve; they are usually found within the inferior temporal portion of the optic nerve head margin (Fig 16-19). Most are unilateral, asymptomatic, and congenital, but they can be acquired in the setting of glaucomatous excavation. Optic pits may lead to serous macular detachments with a poor prognosis if left untreated. The macular retinal thickening and detachment typically extend from the optic pit in an oval shape toward the fovea. OCT imaging reveals macular schisis as well as subretinal fluid. Whether the subretinal fluid is liquid vitreous or cerebrospinal fluid is controversial; a proteomic analysis of fluid in 1 adult case confirmed that vitreous was the definite source. Optic pits are among the few conditions associated with macular schisis. Various successful treatments have been reported, involving vitrectomy with gas-bubble placement.

Figure 16-19 Optic nerve pit with macular detachment, retinal thinning, and retinal pigment epithelial atrophy. A, Fundus photograph shows an abnormal temporal optic nerve head appearance with an excavation, or pit (arrow). The adjacent retina is thickened and elevated, extending into the macula (outlined by arrowheads).B, Optical coherence tomography scan illustrates subretinal fluid (pound sign) associated with the optic pit. Note the degenerated outer segments (arrow) of the photoreceptors.

(Courtesy of Colin A. McCannel, MD.)

The differential diagnosis of optic pits includes glaucomatous nerve damage, such as optic pit–like changes that may occur at the inferior or superior pole of the optic nerve. Optic pits are also included in the differential diagnosis of macular thickening or detachment. Careful examination of the optic nerve margin is important for recognizing this condition.

• Bottoni F, Cereda M, Secondi R, Bochicchio S, Staurenghi G. Vitrectomy for optic disc pit maculopathy: a long-term follow-up study [epub ahead of print February 6, 2018]. Graefes Arch Clin Exp Ophthalmol. doi: 10.1007/s00417-018-3925-9.

• Jain N, Johnson MW. Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. Am J Ophthalmol. 2014;158(3):423–435.

• Ooto S, Mittra RA, Ridley ME, Spaide RF. Vitrectomy with inner retinal fenestration for optic disc pit maculopathy. Ophthalmology. 2014; 121(9):1727–1733.

• Patel S, Ling J, Kim SJ, Schey KL, Rose K, Kuchtey RW. Proteomic analysis of macular fluid associated with advanced glaucomatous excavation. JAMA Ophthalmol. 2016;134(1):108–110.

Figure 16-20 A case of rhegmatogenous retinal detachment caused by a macular hole. A, Fundus photograph (50-degree camera) of the detached retina with a macular hole visible in the center of the macula (arrow).B, A retinal drawing of the extent of the detachment. The area within the blue outline is detached; the red dot symbolizes the macular hole. At presentation, the detachment did not extend to the ora serrata; lack of such an extension is uncharacteristic even for a limited rhegmatogenous retinal detachment arising from a peripheral break. A lattice lesion with pigmentation is drawn superiorly. C, Fundus photograph (30-degree camera) of the macula after successful retinal reattachment using vitrectomy surgery with gas tamponade. Typical myopic fundus features include retinal pigment epithelial changes from myopic degeneration, fair pigmentation, peripapillary scleral crescent, and prominent large choroidal vessels.

(Courtesy of Colin A. McCannel, MD.)

Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.