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An Explosive Onset: Leber's Hereditary Optic Neuropathy
Poster Presentations is so sufficiently accepted, that a study used the presence of pinguecula as evidence of long-term sun exposure. Because genetic links are being established in an ever-increasing number of disorders, we investigated the possibility of a genetic component in pinguecula development by looking at the incidence of pinguecula in blood relatives of patients with this condition. Methods: We utilized an illustrated, 9-question survey sent to patients with pinguecula at the Optometric Center of Fullerton. We asked if the patients had noticed the condition as described and illustrated in the questionnaire on their eyes; and if a blood-related family member had the same condition. We also asked if the patients had observed pinguecula in a blood-related family member. Questions about occupation and sun exposure/sun protection were also included. Results: Ninety-one surveys were analyzed with binary logistic regression. After adjustment for age and race, the only factor that had a significant impact on the presence of pinguecula was the diagnosis of a blood-related family member with the condition (P 5 0.003). Having a blood relative with a pinguecula diagnosis increased a respondent’s odds of also having a pinguecula by 5.48 times. Use of sun protection by the survey respondents was not a significant factor (P 5 0.563). Sun exposure, age, and racial background were also not significant. Discussion: Although we asked patients to recognize pinguecula, we found fairly equal P values for all races and ages with regard to their ability to identify themselves as having pinguecula or not having pinguecula. Thus, they had an equal ability to identify pinguecula on themselves and blood relatives. We found preliminary evidence of a hereditary component associated with the presence of pinguecula and feel further investigations should be done to isolate the genetic component.
Poster 53 Idiopathic Orbital Inflammatory Disease: A Case Report Patricia Estes Walker, O.D., and Stephen Wetick, O.D., Southern College of Optometry, 1245 Madison Avenue, Memphis, Tennessee 38104 Background: Idiopathic orbital inflammatory disease is a benign, noninfective, space-occupying lesion of the orbit of unknown etiology. The presentation is typically unilateral in nature in the third to sixth decade. Lid edema and erythema, pain, chemosis, restricted muscle motility, optic neuropathy, and uveitis are common. Additional testing include CT/MRI scan and blood work. Treatment includes observation, nonsteroidal anti-inflammatory drugs, corticosteroids, immunomodulatory therapy, or surgery. Case Report: A 48-year-old white woman presented with progressive swelling and pain O.S. for 4 days. Her systemic health is unremarkable. Ocular health was significant for myopia. Examination revealed restricted motilities O.S. and pain O.S. Corrected visual acuities measured 20/25
309 O.D., 20/25 O.S. Pupils were round, reactive to light with a negative APD. IOP was unremarkable. Slit lamp evaluation revealed 31 lid edema and erythema, 31 conjunctiva chemosis/injection O.S. Anterior chambers were void of cell and flare OU. Dilated fundus examination found normal structures OU. A stat MRI confirmed the diagnosis of idiopathic orbital inflammatory disease. She was treated with oral prednisolone 40 mg twice a day, 1,000 mg calcium and 500 mg vitamin D for 3 weeks. The steroids were tapered over the next 6 weeks. Her symptoms resolved after 2 weeks of treatment. Conclusion: The diagnosis is of exclusion. Ancillary testing and the use of oral corticosteroids are important in diagnosis and treatment of this disease.
Poster 54 An Explosive Onset: Leber’s Hereditary Optic Neuropathy Melinda Gruszka, B.S., Abby Vanderah, B.S., 2LT, USA, and Joni Scott-Weideman, O.D., CPT, USAFR, Illinois College of Optometry/Illinois Eye Institute, 3241 South Michigan Avenue, Chicago, Illinois 60616 Background: Leber’s hereditary optic neuropathy (LHON) is a rare condition resulting from a mutation of mitochondrial DNA transmitted by mothers to offspring. It commonly affects young men age 15 to 35 years old. Patients usually present with unilateral, acute or subacute, severe painless loss of central vision. Several weeks to months later, the fellow eye will become similarly affected. Early fundus evaluation can display mild swelling of the optic disc progressing to optic atrophy within weeks. To confirm diagnosis of LHON, genetic testing is required. There is currently no effective treatment available; however, once proper diagnosis is made, low vision aids as well as genetic and emotional counseling can be very helpful. LHON should be considered in any patient presenting with unexplained bilateral optic neuritis and visual loss. Case Report: A 52-year-old white man reported to clinic wearing darkly tinted glasses, complaining of photophobia. The patient was a veteran of the United States Marine Corps and at age 19 an ammo truck exploded near his face. This traumatic event is thought to have triggered the onset of the cause of this veteran’s legal blindness. Within the year after the veteran’s encounter, he became legally blind in both eyes and was diagnosed with Leber’s optic neuropathy. The patient had no history of family eye disease. Best-corrected Feinbloom distance visual acuities were 1/700 O.D. and 2/700 O.S. Slit lamp findings and intraocular pressures were within normal limits. Optic discs were symmetric and pale bilaterally. Systemically, the patient was diagnosed with depression, psychosis, and borderline personality disorder. The patient was fit with various low vision devices to optimize visual function. Conclusion: In addition to mitochondrial DNA mutations, environmental factors are thought to trigger the expression
310 of Leber’s hereditary optic neuropathy. The onset of this patient’s optic neuropathy was likely triggered by his traumatic experience. It is important for clinicians to recognize this relationship especially when working with military personnel. Poster 55 Anterior Uveitis as the Presenting Sign of Crohn’s Disease Meng Meng Xu, O.D., Pennsylvania College of Optometry at Salus University, 1200 W. Godfrey Ave., Philadelphia, Pennsylvania 19141 Background: Crohn’s disease is a chronic granulomatous inflammation of the gastrointestinal tract. Ocular complications occur in 5% to 10% of cases and can manifest early in the process. The most common ocular associations are episcleritis, scleritis, and anterior uveitis. The disease has a genetic predisposition and has historically been associated with the white population. Case Summary: A 39-year-old black woman presented to the office with a chief complaint of pain and photophobia. Biomicroscopy uncovered nongranulomatous grade III cell and flare consistent with anterior uveitis O.D. Unbreakable peripheral anterior and posterior syechiae suggested a chronicity despite a lack of history. A review of systems revealed episodes of diarrhea. Appropriate blood work and colonoscopy was suggested, leading to a referral to a gastroenterologist, who confirmed the diagnosis of Crohn’s disease. Subsequent to her diagnosis, her brother was tested and received the same diagnosis. Discussion: We review the literature for recent advances in Crohn’s disease. In addition to the traditional ocular findings, we present information that will familiarize clinicians with the underlying pathophysiology of the resultant uveitis, differential diagnosis, and appropriate systemic workup. New systemic therapies such as Rifabutin are discussed along with its side affect of inducing hypopyon uveitis. Poster 56 Cranial Nerve VI Palsy in a Hypertensive Patient With a Parathyroid Tumor Tracy Swartz, O.D., M.S., and Shawna Hill, O.D., VisionAmerica of Huntsville, 1150 Eagletree Lane, Huntsville, Alabama 35758 Introduction: A 75-year-old woman presented with acute diplopia secondary to a cranial nerve VI palsy. The patient was later found to have uncontrolled hypertension caused by a parathyroid tumor, which she refused to have removed. Case Study: The patient presented after surgical correction of a long-standing exotropia with sudden-onset diplopia. An abduction deficit, most obvious when looking to the right, was noted, and a cranial nerve VI palsy was diagnosed. The referral for physical and bloodwork proved problematic when the patient refused to return to her
Optometry, Vol 80, No 6, June 2009 internist because he was recommending surgery. Blood tests obtained the month before the palsy showed elevated calcium levels and severely elevated parathyroid hormone levels, revealing a parathyroid tumor. After her blood pressure increased to 188/111, she refused to go to the ER but did visit a new internist who is currently trying to control the blood pressure without surgery. Parathyroid tumors typically present with weakness, fatigue, depression, and general aches and pains. With more severe disease, a person may suffer from anorexia, nausea, constipation, vomiting, mental confusion, and increased thirst and urination. Increased calcium in the blood may result in kidney stones and hypertension, as in this patient’s case. Although systemic medications may successfully treat milder disease, when significant problems occur, surgical intervention is the only treatment. Conclusion: This case illustrates the importance of communication between the internist and the optometrist when systemic disease effects the visual system because of an uncontrolled medical condition in a patient unwilling to pursue treatment.
Poster 57 Recurrent Central Serous Chorioretinopathy With Bilateral Involvement Natalie Wiggins, O.D., and Pat Segu, O.D., The University of Houston, College of Optometry, 505 J. Davis Armistead Building, Houston, Texas 77204-2020 Background: Central serous chorioretinopathy (CSCR) is an idiopathic condition in which choroidal vascular hyperpermeability causes leakage of choroidal fluid through Bruch’s membrane and into the subretinal space. CSCR typically resolves spontaneously over a period of 4 to 6 months and has only been found bilaterally in 20% to 30% of patients. Case Report: A 41-year-old vasculopathic, Hispanic man presented to a clinic with the complaint of reduced vision O.D. with a new glasses prescription over a 2-week period. The patient’s ocular history included a previous episode of CSCR O.D. 3 years before, after which he was lost to follow-up care. Best-corrected acuities were 20/60 O.D. and 20/25 O.S. Confrontation fields, Amsler grid, ocular motilities, and pupils were all unremarkable. Dilated fundus examination found an area of retinal elevation 3/4 disc diameter in size over the macula O.D. Subsequent optical coherence tomography (OCT) testing confirmed a large serous retinal detachment O.D. and healthy macula O.S. The patient had CSCR O.D. and returned to the clinic 1 month later. At this visit, OCT testing found resolving CSCR O.D.; however, an area of retinal elevation O.S. superior and temporal to the macula was noted. The patient had bilateral CSCR diagnosed with improvement O.D. Management included monitoring of visual acuity OU, Amsler grid, OCT scanning, and visual field testing OU.
Poster 53 Idiopathic Orbital Inflammatory Disease: A Case Report Patricia Estes Walker, O.D., and Stephen Wetick, O.D., Southern College of Optometry, 1245 Madison Avenue, Memphis, Tennessee 38104 Background: Idiopathic orbital inflammatory disease is a benign, noninfective, space-occupying lesion of the orbit of unknown etiology. The presentation is typically unilateral in nature in the third to sixth decade. Lid edema and erythema, pain, chemosis, restricted muscle motility, optic neuropathy, and uveitis are common. Additional testing include CT/MRI scan and blood work. Treatment includes observation, nonsteroidal anti-inflammatory drugs, corticosteroids, immunomodulatory therapy, or surgery. Case Report: A 48-year-old white woman presented with progressive swelling and pain O.S. for 4 days. Her systemic health is unremarkable. Ocular health was significant for myopia. Examination revealed restricted motilities O.S. and pain O.S. Corrected visual acuities measured 20/25
309 O.D., 20/25 O.S. Pupils were round, reactive to light with a negative APD. IOP was unremarkable. Slit lamp evaluation revealed 31 lid edema and erythema, 31 conjunctiva chemosis/injection O.S. Anterior chambers were void of cell and flare OU. Dilated fundus examination found normal structures OU. A stat MRI confirmed the diagnosis of idiopathic orbital inflammatory disease. She was treated with oral prednisolone 40 mg twice a day, 1,000 mg calcium and 500 mg vitamin D for 3 weeks. The steroids were tapered over the next 6 weeks. Her symptoms resolved after 2 weeks of treatment. Conclusion: The diagnosis is of exclusion. Ancillary testing and the use of oral corticosteroids are important in diagnosis and treatment of this disease.
Poster 54 An Explosive Onset: Leber’s Hereditary Optic Neuropathy Melinda Gruszka, B.S., Abby Vanderah, B.S., 2LT, USA, and Joni Scott-Weideman, O.D., CPT, USAFR, Illinois College of Optometry/Illinois Eye Institute, 3241 South Michigan Avenue, Chicago, Illinois 60616 Background: Leber’s hereditary optic neuropathy (LHON) is a rare condition resulting from a mutation of mitochondrial DNA transmitted by mothers to offspring. It commonly affects young men age 15 to 35 years old. Patients usually present with unilateral, acute or subacute, severe painless loss of central vision. Several weeks to months later, the fellow eye will become similarly affected. Early fundus evaluation can display mild swelling of the optic disc progressing to optic atrophy within weeks. To confirm diagnosis of LHON, genetic testing is required. There is currently no effective treatment available; however, once proper diagnosis is made, low vision aids as well as genetic and emotional counseling can be very helpful. LHON should be considered in any patient presenting with unexplained bilateral optic neuritis and visual loss. Case Report: A 52-year-old white man reported to clinic wearing darkly tinted glasses, complaining of photophobia. The patient was a veteran of the United States Marine Corps and at age 19 an ammo truck exploded near his face. This traumatic event is thought to have triggered the onset of the cause of this veteran’s legal blindness. Within the year after the veteran’s encounter, he became legally blind in both eyes and was diagnosed with Leber’s optic neuropathy. The patient had no history of family eye disease. Best-corrected Feinbloom distance visual acuities were 1/700 O.D. and 2/700 O.S. Slit lamp findings and intraocular pressures were within normal limits. Optic discs were symmetric and pale bilaterally. Systemically, the patient was diagnosed with depression, psychosis, and borderline personality disorder. The patient was fit with various low vision devices to optimize visual function. Conclusion: In addition to mitochondrial DNA mutations, environmental factors are thought to trigger the expression
310 of Leber’s hereditary optic neuropathy. The onset of this patient’s optic neuropathy was likely triggered by his traumatic experience. It is important for clinicians to recognize this relationship especially when working with military personnel. Poster 55 Anterior Uveitis as the Presenting Sign of Crohn’s Disease Meng Meng Xu, O.D., Pennsylvania College of Optometry at Salus University, 1200 W. Godfrey Ave., Philadelphia, Pennsylvania 19141 Background: Crohn’s disease is a chronic granulomatous inflammation of the gastrointestinal tract. Ocular complications occur in 5% to 10% of cases and can manifest early in the process. The most common ocular associations are episcleritis, scleritis, and anterior uveitis. The disease has a genetic predisposition and has historically been associated with the white population. Case Summary: A 39-year-old black woman presented to the office with a chief complaint of pain and photophobia. Biomicroscopy uncovered nongranulomatous grade III cell and flare consistent with anterior uveitis O.D. Unbreakable peripheral anterior and posterior syechiae suggested a chronicity despite a lack of history. A review of systems revealed episodes of diarrhea. Appropriate blood work and colonoscopy was suggested, leading to a referral to a gastroenterologist, who confirmed the diagnosis of Crohn’s disease. Subsequent to her diagnosis, her brother was tested and received the same diagnosis. Discussion: We review the literature for recent advances in Crohn’s disease. In addition to the traditional ocular findings, we present information that will familiarize clinicians with the underlying pathophysiology of the resultant uveitis, differential diagnosis, and appropriate systemic workup. New systemic therapies such as Rifabutin are discussed along with its side affect of inducing hypopyon uveitis. Poster 56 Cranial Nerve VI Palsy in a Hypertensive Patient With a Parathyroid Tumor Tracy Swartz, O.D., M.S., and Shawna Hill, O.D., VisionAmerica of Huntsville, 1150 Eagletree Lane, Huntsville, Alabama 35758 Introduction: A 75-year-old woman presented with acute diplopia secondary to a cranial nerve VI palsy. The patient was later found to have uncontrolled hypertension caused by a parathyroid tumor, which she refused to have removed. Case Study: The patient presented after surgical correction of a long-standing exotropia with sudden-onset diplopia. An abduction deficit, most obvious when looking to the right, was noted, and a cranial nerve VI palsy was diagnosed. The referral for physical and bloodwork proved problematic when the patient refused to return to her
Optometry, Vol 80, No 6, June 2009 internist because he was recommending surgery. Blood tests obtained the month before the palsy showed elevated calcium levels and severely elevated parathyroid hormone levels, revealing a parathyroid tumor. After her blood pressure increased to 188/111, she refused to go to the ER but did visit a new internist who is currently trying to control the blood pressure without surgery. Parathyroid tumors typically present with weakness, fatigue, depression, and general aches and pains. With more severe disease, a person may suffer from anorexia, nausea, constipation, vomiting, mental confusion, and increased thirst and urination. Increased calcium in the blood may result in kidney stones and hypertension, as in this patient’s case. Although systemic medications may successfully treat milder disease, when significant problems occur, surgical intervention is the only treatment. Conclusion: This case illustrates the importance of communication between the internist and the optometrist when systemic disease effects the visual system because of an uncontrolled medical condition in a patient unwilling to pursue treatment.
Poster 57 Recurrent Central Serous Chorioretinopathy With Bilateral Involvement Natalie Wiggins, O.D., and Pat Segu, O.D., The University of Houston, College of Optometry, 505 J. Davis Armistead Building, Houston, Texas 77204-2020 Background: Central serous chorioretinopathy (CSCR) is an idiopathic condition in which choroidal vascular hyperpermeability causes leakage of choroidal fluid through Bruch’s membrane and into the subretinal space. CSCR typically resolves spontaneously over a period of 4 to 6 months and has only been found bilaterally in 20% to 30% of patients. Case Report: A 41-year-old vasculopathic, Hispanic man presented to a clinic with the complaint of reduced vision O.D. with a new glasses prescription over a 2-week period. The patient’s ocular history included a previous episode of CSCR O.D. 3 years before, after which he was lost to follow-up care. Best-corrected acuities were 20/60 O.D. and 20/25 O.S. Confrontation fields, Amsler grid, ocular motilities, and pupils were all unremarkable. Dilated fundus examination found an area of retinal elevation 3/4 disc diameter in size over the macula O.D. Subsequent optical coherence tomography (OCT) testing confirmed a large serous retinal detachment O.D. and healthy macula O.S. The patient had CSCR O.D. and returned to the clinic 1 month later. At this visit, OCT testing found resolving CSCR O.D.; however, an area of retinal elevation O.S. superior and temporal to the macula was noted. The patient had bilateral CSCR diagnosed with improvement O.D. Management included monitoring of visual acuity OU, Amsler grid, OCT scanning, and visual field testing OU.