What's Your Diagnosis?

Long-term blurred vision in one eye

A 48-year-old African American man presented to the clinic with complaints of blurry, distorted vision that had been present in the left eye for 6 months. The patient had no pertinent ocular history. His medical history was positive for seasonal allergies, for which he was taking Claritin (loratadine, Bayer) daily.

Optos image of the disc and macula of the left eye.
Source: Stephanie Johnson, OD

The patient’s best corrected visual acuities were 20/20 OD and 20/50 OS. He had normal extraocular motilities, and confrontation visual fields were full to finger counting in both eyes. IOP measured with Tono-Pen (Reichert) was 16 mm Hg OD and 16 mm Hg OS.

OCT scan line imaging the disc to the macula showed accumulation of fluid within the inner and outer retinal layers that was in conjunction with the optic nerve.

Anterior segment findings were normal in both eyes. The posterior segment of the right eye was normal. The macula in the left eye was thickened with a cystic appearance, and the optic nerve in the left eye had an abnormal appearance. An OCT image encompassing the optic nerve, macula and papillomacular macular bundle was obtained to determine the etiology of macular thickening and to better characterize the optic nerve abnormality.

OCT scans over the optic nerve show a hyper-reflective structure within the cup (yellow arrow) and a cavity within the cup (red arrow).

OCT imaging revealed macular schisis extending through the papillomacular bundle to the temporal optic nerve. OCT scans over the optic nerve revealed a cavity within the optic nerve and overlying hyper-reflective membrane within the cup.

What’s your diagnosis?
See answer on the next page.

The patient was diagnosed with optic disc pit maculopathy (ODPM). Optic disc pits are rare congenital abnormalities affecting less than 0.20% of the population (Healey et al.). They often occur temporally and appear as gray pits within the disc. While most remain a benign finding, complications can spontaneously arise such as serous retinal detachment or macular schisis.

Jessica Haynes

OCT findings overlying the area of disc pits are variable, but reports of cavities within the disc, membranous structures within the cup and hyporeflective spaces beneath the disc have been reported (Roy et al., Lincoff et al., Jain et al.). In patients who develop maculopathy, fluid can be present within the inner or outer retinal layers (inner or outer macular schisis or retinoschisis). In addition, subretinal fluid can accumulate, causing serous retinal detachment. The schisis component is often connected to the disc. The origin of macular fluid in the cases of optic disc pits is still unknown.

Differential diagnosis

The differential diagnosis for ODPM includes other causes of intra and subretinal fluid and macular schisis. Potential etiologies of intraretinal fluid are varied and can include: macular edema from retinal vascular disease such as diabetic retinopathy and retinal vein occlusions, Irvine-Gass cystoid macular edema and others. Macular schisis can result from conditions such as juvenile X-linked retinoschisis, myopic traction maculopathy, epimacular membranes and within the spectrum of vitreomacular traction syndrome. Serous detachments within the macula can be present in conditions such as choroidal neovascular membranes, central serous retinopathy, Vogt-Koyanagi-Harada disease, hypertensive choroidopathy, choroidal melanomas and hemangiomas, and others.

Mohammad Rafieetary

A recent study by Iglicki and colleagues involving 59 patients reported that 74.6% of patients with ODPM were initially misdiagnosed. Forty-four (90.9%) of those misdiagnosed received treatment prior to referral. Of those who were treated, 92.5% received intravitreal anti-VEGF injections. Additional treatments included photodynamic therapy, argon laser, acetazolamide and topical nonsteroidal anti-inflammatory drugs, all of which are ineffective at managing ODPM and have a risk of ocular and systemic side effects. The most common misdiagnosis was choroidal neovascular membrane from age-related macular degeneration. Patients who were misdiagnosed tended to be older and more often had outer retinoschisis, which can resemble cystoid macular edema. This study emphasizes the importance of proper OCT scanning techniques to correctly identify patients with ODPM.

It is crucial to obtain appropriate OCT imaging encompassing the macula, papillomacular bundle and optic nerve. This will allow visualization of the possible connection between the macular fluid and the optic nerve, which is present in about 90% of ODPM cases (Iglicki et al.). In addition, optic nerve abnormalities typical of disc pits can be recognized. Careful retinal evaluation is important to identify the presence of an optic disc pit and to rule out the presence of other etiologies.

Stephanie Johnson

Patient management

There is no current consensus on surgical management used to address optic disc pit maculopathy. Surgical techniques include pars plana vitrectomy, laser photocoagulation, intravitreal gas or air injection, macular buckling and internal limiting membrane peeling. Maculopathy may self-regress or remain stable, and, as such, observation may be warranted in select patients. However, it is reported that most cases of maculopathy are progressive, leading to vision loss, and intervention is likely to be necessary (Moisseiev et al.). Because our patient’s visual acuity was reduced to 20/50 with symptoms of blurred vision and metamorphopsia, the option of surgical intervention was discussed. He elected to proceed with surgery. Pars plana vitrectomy with peeling of the internal limiting membrane, endophotocoagulation temporal to the optic nerve with minimal energy, and fluid-air exchange was performed.

Patient follow-up, outcomes

At the patient’s 2-week postoperative visit, his vision had improved to 20/30, and he reported mild improvement in his symptoms. OCT imaging showed mild improvement in the foveal anatomy. There were no complications from surgery. The patient was followed at appropriate intervals postsurgery.

Top image is 2 weeks and bottom is 1-year post surgery, showing significant improvement of intraretinal cavitations and fluid.

His last recorded follow up was 1-year postsurgery. His recorded visual acuity remained 20/30; however, he had experienced significant improvement in his visual symptoms and metamorphopsia over the course of the year. The 1-year follow up OCT showed significant anatomical improvement.

While not common, ODPM can be a progressive cause of central vision loss in patients with optic disc pits. It is important to correctly identify the etiology of vision loss in these patients so it can be appropriately managed. The postsurgical improvement seen in patients with optic disc pit maculopathy is not instantaneous, and patients may continue to have functional vision improvement for months or longer after surgery.

A 48-year-old African American man presented to the clinic with complaints of blurry, distorted vision that had been present in the left eye for 6 months. The patient had no pertinent ocular history. His medical history was positive for seasonal allergies, for which he was taking Claritin (loratadine, Bayer) daily.

Optos image of the disc and macula of the left eye.
Source: Stephanie Johnson, OD

The patient’s best corrected visual acuities were 20/20 OD and 20/50 OS. He had normal extraocular motilities, and confrontation visual fields were full to finger counting in both eyes. IOP measured with Tono-Pen (Reichert) was 16 mm Hg OD and 16 mm Hg OS.

OCT scan line imaging the disc to the macula showed accumulation of fluid within the inner and outer retinal layers that was in conjunction with the optic nerve.

Anterior segment findings were normal in both eyes. The posterior segment of the right eye was normal. The macula in the left eye was thickened with a cystic appearance, and the optic nerve in the left eye had an abnormal appearance. An OCT image encompassing the optic nerve, macula and papillomacular macular bundle was obtained to determine the etiology of macular thickening and to better characterize the optic nerve abnormality.

OCT scans over the optic nerve show a hyper-reflective structure within the cup (yellow arrow) and a cavity within the cup (red arrow).

OCT imaging revealed macular schisis extending through the papillomacular bundle to the temporal optic nerve. OCT scans over the optic nerve revealed a cavity within the optic nerve and overlying hyper-reflective membrane within the cup.

What’s your diagnosis?
See answer on the next page.

PAGE BREAK

The patient was diagnosed with optic disc pit maculopathy (ODPM). Optic disc pits are rare congenital abnormalities affecting less than 0.20% of the population (Healey et al.). They often occur temporally and appear as gray pits within the disc. While most remain a benign finding, complications can spontaneously arise such as serous retinal detachment or macular schisis.

Jessica Haynes

OCT findings overlying the area of disc pits are variable, but reports of cavities within the disc, membranous structures within the cup and hyporeflective spaces beneath the disc have been reported (Roy et al., Lincoff et al., Jain et al.). In patients who develop maculopathy, fluid can be present within the inner or outer retinal layers (inner or outer macular schisis or retinoschisis). In addition, subretinal fluid can accumulate, causing serous retinal detachment. The schisis component is often connected to the disc. The origin of macular fluid in the cases of optic disc pits is still unknown.

Differential diagnosis

The differential diagnosis for ODPM includes other causes of intra and subretinal fluid and macular schisis. Potential etiologies of intraretinal fluid are varied and can include: macular edema from retinal vascular disease such as diabetic retinopathy and retinal vein occlusions, Irvine-Gass cystoid macular edema and others. Macular schisis can result from conditions such as juvenile X-linked retinoschisis, myopic traction maculopathy, epimacular membranes and within the spectrum of vitreomacular traction syndrome. Serous detachments within the macula can be present in conditions such as choroidal neovascular membranes, central serous retinopathy, Vogt-Koyanagi-Harada disease, hypertensive choroidopathy, choroidal melanomas and hemangiomas, and others.

Mohammad Rafieetary

A recent study by Iglicki and colleagues involving 59 patients reported that 74.6% of patients with ODPM were initially misdiagnosed. Forty-four (90.9%) of those misdiagnosed received treatment prior to referral. Of those who were treated, 92.5% received intravitreal anti-VEGF injections. Additional treatments included photodynamic therapy, argon laser, acetazolamide and topical nonsteroidal anti-inflammatory drugs, all of which are ineffective at managing ODPM and have a risk of ocular and systemic side effects. The most common misdiagnosis was choroidal neovascular membrane from age-related macular degeneration. Patients who were misdiagnosed tended to be older and more often had outer retinoschisis, which can resemble cystoid macular edema. This study emphasizes the importance of proper OCT scanning techniques to correctly identify patients with ODPM.

It is crucial to obtain appropriate OCT imaging encompassing the macula, papillomacular bundle and optic nerve. This will allow visualization of the possible connection between the macular fluid and the optic nerve, which is present in about 90% of ODPM cases (Iglicki et al.). In addition, optic nerve abnormalities typical of disc pits can be recognized. Careful retinal evaluation is important to identify the presence of an optic disc pit and to rule out the presence of other etiologies.

Stephanie Johnson

Patient management

There is no current consensus on surgical management used to address optic disc pit maculopathy. Surgical techniques include pars plana vitrectomy, laser photocoagulation, intravitreal gas or air injection, macular buckling and internal limiting membrane peeling. Maculopathy may self-regress or remain stable, and, as such, observation may be warranted in select patients. However, it is reported that most cases of maculopathy are progressive, leading to vision loss, and intervention is likely to be necessary (Moisseiev et al.). Because our patient’s visual acuity was reduced to 20/50 with symptoms of blurred vision and metamorphopsia, the option of surgical intervention was discussed. He elected to proceed with surgery. Pars plana vitrectomy with peeling of the internal limiting membrane, endophotocoagulation temporal to the optic nerve with minimal energy, and fluid-air exchange was performed.

PAGE BREAK

Patient follow-up, outcomes

At the patient’s 2-week postoperative visit, his vision had improved to 20/30, and he reported mild improvement in his symptoms. OCT imaging showed mild improvement in the foveal anatomy. There were no complications from surgery. The patient was followed at appropriate intervals postsurgery.

Top image is 2 weeks and bottom is 1-year post surgery, showing significant improvement of intraretinal cavitations and fluid.

His last recorded follow up was 1-year postsurgery. His recorded visual acuity remained 20/30; however, he had experienced significant improvement in his visual symptoms and metamorphopsia over the course of the year. The 1-year follow up OCT showed significant anatomical improvement.

While not common, ODPM can be a progressive cause of central vision loss in patients with optic disc pits. It is important to correctly identify the etiology of vision loss in these patients so it can be appropriately managed. The postsurgical improvement seen in patients with optic disc pit maculopathy is not instantaneous, and patients may continue to have functional vision improvement for months or longer after surgery.