Acute Solar Retinopathy and the Autosomal Dominant Compelling Helio-Ophthalmic Outburst Syndrome

The photic sneeze reflex, also known as autosomal dominant compelling helio-ophthalmic outburst (ACHOO)syndrome, is found in approximately 1 in every 4 individuals.We report the case of a young man who elicited his own photic sneeze reflex in order to clear the congestive symptoms of an upper respiratory tract infection, resulting in acute solar retinopathy.

Clinical Correspondence Acute Solar Retinopathy and the Autosomal Dominant Compelling Helio-Ophthalmic Outburst Syndrome Ioana Scherbakova, BFA, Daniel S. Casper, MD, PhD, Srilaxmi Bearelly, MD, MHS, Jeffrey G. Odel, MD T he photic sneeze reflex, also known as autosomal dominant compelling helio-ophthalmic outburst (ACHOO) syndrome, is found in approximately 1 in every 4 individuals. We report the case of a young man who elicited his own photic sneeze reflex in order to clear the congestive symptoms of an upper respiratory tract infection, resulting in acute solar retinopathy. A 21-year-old man was evaluated for the acute appearance of black scotomas, noted centrally in each eye. Six days earlier, he had developed an upper respiratory tract infection with uncomfortable nasal congestion and decided that he would relieve the congestion by "sneezing it out." The following day, he awoke with a painless, single black spot before each eye. Two days later, he presented for evaluation. He was a student with a history of maladaptive behaviors, Type 1 diabetes mellitus for which he took insulin, and Hashimoto thyroiditis for which he took thyroid hormone replacement. He had an ocular history of rare retinal microaneurysms. At his examination, he revealed that in order to induce sneezes, he had stared at the sun for "about 10 seconds." He reported that he thought that this was a common thing for people to do and had previously done the same. On examination, his visual acuity was 20/25 in the right eye and 20/20 in the left eye, and he saw 6 of 6 American Optical Hardy-Rand-Rittler color plates on both eyes. Humphrey 24-2 visual fields were unremarkable, but on Amsler grid testing, he described small black scotomas just off of fixation on both eyes. His pupils were 4 mm on both eyes, briskly reactive, and with no relative afferent pupillary defect. Funduscopic examination revealed subtle parafoveal pigmentary changes on both eyes. Optical coherence tomography (OCT) demonstrated hyperreflectivity extending from the outer nuclear layer to the retinal pigment epithelium (RPE), along with disruption in the ellipsoid portion of the inner segments and RPE, with changes greater in the right eye than in the left eye (Fig. 1). Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York. The authors report no conflicts of interest. Address correspondence to Ioana Scherbakova, BFA, 499 Fort Washington Avenue, #4E, New York, NY 10033; E-mail: [e-mail] Scherbakova et al: J Neuro-Ophthalmol 2020; 40: 243-245 His visual symptoms and clinical examination findings raised concern for acute solar retinopathy. No treatment was initiated, and he was cautioned to avoid looking directly at the sun. Within 1 week, he noted improvement in his vision and found the spots to be much diminished. Ten days after his presentation, his acuity had improved to 20/20-2 and 20/ 15-1, and his OCT showed significant improvement in the previously noted outer retinal disruption (Fig. 2). For thousands of years, people have recognized the phenomenon of sun-induced sneezing. Writing in the fourth century BCE, Aristotle pondered, "why does the heat of the sun provoke sneezing, and not the heat of the fire? "(1) In the 20th century, Sedan noted that a number of his patients sneezed in response to the bright beam of his ophthalmoscope (2). In 1964, Everett named this phenomenon the "photic sneeze reflex," finding it to be present in 23% of medical students (3). A hereditary basis was raised in 1978, when 4 physicians at a birth defects meeting found that they experienced light-induced paroxysms of sneezing and wondered whether these fits resulted from a genetically inherited condition (4). In 1984, father-to-daughter inheritance of the photic sneeze reflex was documented in a baby girl who routinely sneezed twice when moved into bright sunlight (5). Although called ACHOO, the mechanism of photic sneezing and its genetic basis are not yet fully understood. Sunlight-induced sneezes have been thought to arise due to cross-talk between the optic and trigeminal nerves on intense visual stimulus with bright light, with visual afferents stimulating the trigeminal and parasympathetic systems and producing a sneeze via the nucleus intermedius and cranial nerves V, VII, and IX-XII (3). Although a sneeze-evoking region has been identified in the medulla of cats, no such center has yet been identified in humans, suggesting that further exploration of the human brainstem may further elucidate the mechanism of sun-induced sneezing (6). When photic sneezers were studied with EEG and low-resolution brain electromagnetic tomography, it was found that they exhibited enhanced excitability of the visual cortex compared with control subjects on exposure to bright lights (7). The insula and somatosensory cortex close to the somatotopic representation of the nose also exhibited significantly enhanced activity, indicating that the sun sneeze "reflex" 243 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Clinical Correspondence FIG. 1. Fundus and OCT images on initial examination. OCT, optical coherence tomography. FIG. 2. Fundus and OCT images at 10-day follow-up. OCT, optical coherence tomography. may be modulated by cortical rather than brainstem circuits (7). Individuals who deliberately stare into sunlight are at risk for retinal damage in the form of solar retinopathy. Ultraviolet radiation produces a photochemical and thermal injury to the RPE that is mostly reversible; however, severe cases of retinal sun exposure can cause depigmentation of the pigment epithelium and permanent loss of photoreceptors (8). Acutely, solar retinopathy can lead to central scotomas, chromatopsia, metamorphosis, headache, and a mild decrease in acuity (8). Often, visual acuity is reduced to between 20/40 and 20/70, and in most cases, it returns to between 20/20 and 20/40 within a period of 3-6 months (8). Direct sun gazing causes foveolar damage in the form of a focal loss of retinal receptors (8). On fundoscopy, solar retinopathy initially manifests as a small yellow-white spot with surrounding gray in the center of the foveolar area, 244 which fades after several days to be replaced by a reddish spot that becomes a lamellar depression or hole (8). Retinal solar damage can be visualized with OCT, which reveals a foveolar depression with sharply circumscribed edges and loss of photoreceptors, although similar lesions may be seen after spontaneous vitreous separation or following whiplashlike injuries (8). STATEMENT OF AUTHORSHIP Category 1: a) Conception and design: D. S. Casper and J. G. Odel; b) Acquisition of data: D. S. Casper; c) Analysis and interpretation of data: D. S. Casper, S. Bearelly, and J. G. Odel. Category 2: a) Drafting the manuscript: D. S. Casper, S. Bearelly, and J. G. Odel; b) Revising it for intellectual content: D. S. Casper, S. Bearelly, and J. G. Odel. Category 3: a) Final approval of the completed manuscript: D. S. Casper, S. Bearelly, and J. G. Odel. Scherbakova et al: J Neuro-Ophthalmol 2020; 40: 243-245 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Clinical Correspondence REFERENCES 1. 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