Vision In Dim Light Research Articles

LOW VISION IN RETINITIS PIGMENTOSA: HOW TO ENHANCE FUNCTIONAL VISION IN PSEUDOPHAKIC PATIENT

Introduction : Retinitis Pigmentosa (RP) could lead to various visual impairments, including decreased visual acuity, poor dark adaptation, decreased contrast sensitivity, poor color vision, visual field constriction, leading to low vision (LV). LV in RP decreases patient’s quality of life (QoL) and Independence. We aim to report a successful case of LV management in a bilateral pseudophakic patient with RP.
 Case Illustration : A 33-year-old man came with progressively blurred vision in both eyes (BE) that worsen 6 months ago. Ophthalmologic examination revealed his uncorrected visual acuity for right eye (RE) and left Eye (LE) was 6/60 and 4/60. The patient had cataract surgeries and IOLs implantation on BE in 2021. Funduscopic examination revealed the bone spicule appearance, blood vessel attenuation, and waxy disc pallor on BE. Humphrey's examination showed a peripheral visual field defect. Decreased contrast sensitivity and poor color vision were also found.
 Discussion : The patient was managed by LV aids and rehabilitation. Spectacle clarified distant and near vision with best corrected visual acuity (BCVA) 6/21 and 0.8 M on BE, photochromic lenses aided in adapting to various lighting levels and as a UV protection, and the addition of illumination and color contrast enhancement improved vision in dim light. A convex mirror to be used as a field- enhancement spotting tool. Rehabilitation enhances his head tracking, scanning, and habitual spotting skills. Improvement of QoL has been recorded using LVQoL questionnaires.
 Conclusion : LV management are vary based on an individual’s level of functional vision and personal preferences. Optimal LV management could enhance patient QoL and Independence.

Probing the mechanism by which the retinal G protein transducin activates its biological effector PDE6

Phototransduction in retinal rods occurs when the G protein-coupled photoreceptor rhodopsin triggers the activation of phosphodiesterase 6 (PDE6) by GTP-bound alpha subunits of the G protein transducin (GαT). Recently, we presented a cryo-EM structure for a complex between two GTP-bound recombinant GαT subunits and native PDE6, that included a bivalent antibody bound to the C-terminal ends of GαT and the inhibitor vardenafil occupying the active sites on the PDEα and PDEβ subunits. We proposed GαT-activated PDE6 by inducing a striking reorientation of the PDEγ subunits away from the catalytic sites. However, questions remained including whether in the absence of the antibody GαT binds to PDE6 in a similar manner as observed when the antibody is present, does GαT activate PDE6 by enabling the substrate cGMP to access the catalytic sites, and how does the lipid membrane enhance PDE6 activation? Here, we demonstrate that 2:1GαT-PDE6 complexes form with either recombinant or retinal GαT in the absence of the GαT antibody. We show that GαT binding is not necessary for cGMP nor competitive inhibitors to access the active sites; instead, occupancy of the substrate binding sites enables GαT to bind and reposition the PDE6γ subunits to promote catalytic activity. Moreover, we demonstrate by reconstituting GαT-stimulated PDE6 activity in lipid bilayer nanodiscs that the membrane-induced enhancement results from an increase in the apparent binding affinity of GαT for PDE6. These findings provide new insights into how the retinal G protein stimulates rapid catalytic turnover by PDE6 required for dim light vision.

Convergent evolution of dim light vision in owls and deep-diving whales

Animals with enhanced dim-light sensitivity are at higher risk of light-induced retinal degeneration when exposed to bright light conditions.1,2,3,4 This trade-off is mediated by the rod photoreceptor sensory protein, rhodopsin (RHO), and its toxic vitamin A chromophore by-product, all-trans retinal.5,6,7,8 Rod arrestin (Arr-1) binds to RHO and promotes sequestration of excess all-trans retinal,9,10 which has recently been suggested as a protective mechanism against photoreceptor cell death.2,11 We investigated Arr-1 evolution in animals at high risk of retinal damage due to periodic bright-light exposure of rod-dominated retinas. Here, we find the convergent evolution of enhanced Arr-1/RHO all-trans-retinal sequestration in owls and deep-diving whales. Statistical analyses reveal a parallel acceleration of Arr-1 evolutionary rates in these lineages, which is associated with the introduction of a rare Arr-1 mutation (Q69R) into the RHO-Arr-1 binding interface. Using invitro assays, we find that this single mutation significantly enhances RHO-all-trans-retinal sequestration by ∼30%. This functional convergence across 300 million years of evolutionary divergence suggests that Arr-1 and RHO may play an underappreciated role in the photoprotection of the eye, with potentially vast clinical significance.

Subjective vision assessment in companion dogs using dogVLQ demonstrates age-associated visual dysfunction.

Dim light vision as assessed by proxy and clinical tools is commonly impaired in older humans and impacts quality of life. Although proxy visual assessment tools have been developed for dogs, it is unclear if they are sensitive enough to detect subtle visual dysfunction in older dogs. We sought to determine if a newly designed proxy visual function questionnaire could detect age-associated differences in visual behaviors in varying lighting conditions in dogs. A 27-item questionnaire (the dog variable lighting questionnaire, dogVLQ) was designed to assess visual behavior in dogs in different lighting settings. We conducted the dogVLQ, a previously validated visual function questionnaire the dog vision impairment score and performed light- and dark-adapted electroretinography (ERG) on a subset of dogs. Questionnaire scores were analyzed for dog age associations using correlation analysis. Questionnaire responses from 235 dog owners were obtained (122 female, 112 male dogs), 79 of which underwent ERG (43 female, 36 male dogs). Bright light visual behavior was significantly associated with light-adapted bright flash ERG amplitudes, visual behavior in near darkness was associated with dark-adapted ERG amplitudes. The dogVLQ identified worse vision in older dogs in bright light, dim light, and darkness; predicted onset was younger for vision in near darkness. Older dogs had more difficulty navigating transitions between lighting conditions. Subjective dog owner assessment of visual function associates with objective measurement of retinal function in dogs and supports reduced vision-mediated behaviors in older dogs.

Dim-light colour vision in the facultatively nocturnal Asian giant honeybee, Apis dorsata.

We discovered nocturnal colour vision in the Asian giant honeybee Apis dorsata-a facultatively nocturnal species-at mesopic light intensities, down to half-moon light levels (approx. 10-2 cd m-2). The visual threshold of nocturnality aligns with their reported nocturnal activity down to the same light levels. Nocturnal colour vision in A. dorsata is interesting because, despite being primarily diurnal, its colour vision capabilities extend into dim light, while the 'model' European honeybee Apis mellifera is reported to be colour-blind at twilight. By employing behavioural experiments with naturally nesting A. dorsata colonies, we show discrimination of the trained colour from other stimuli during the day, and significantly, even at night. Nocturnal colour vision in bees has so far only been reported in the obligately nocturnal carpenter bee Xylocopa tranquebarica. The discovery of colour vision in these two bee species, despite differences in the extent of their nocturnality and the limitations of their apposition compound eye optics, opens avenues for future studies on visual adaptations for dim-light colour vision, their role in pollination of flowers at night, and the effect of light pollution on nocturnal activity in A. dorsata, a ubiquitous pollinator in natural, agricultural and urban habitats in the Asian tropics and sub-tropics.

Gene Therapies for Retinitis Pigmentosa that Target Glucose Metabolism.

Retinitis pigmentosa is a blinding disease wherein rod photoreceptors are affected first, due to the expression of a disease gene, leading to the loss of dim light vision. In many cases, cones do not express the disease gene, yet they are also affected and eventually die, typically after most of the rods in their neighborhood have died. The cause of secondary cone death is unclear. Photoreceptors are one of the most energy-demanding cell types in the body and consume a high amount of glucose. At an early stage of degeneration, the cones appear to have a shortage of glucose to fuel their metabolism. This review focuses on gene therapy approaches that address this potential metabolic shortcoming.

Three-Dimensional Ultrastructure of the Normal Rod Photoreceptor Synapse and Degenerative Changes Induced by Retinal Detachment.

The rod photoreceptor synapse is the first synapse of dim-light vision and one of the most complex in the mammalian CNS. The components of its unique structure, a presynaptic ribbon and a single synaptic invagination enclosing several postsynaptic processes, have been identified, but disagreements about their organization remain. Here, we have used EM tomography to generate high-resolution images of 3-D volumes of the rod synapse from the female domestic cat. We have resolved the synaptic ribbon as a single structure, with a single arciform density, indicating the presence of one long site of transmitter release. The organization of the postsynaptic processes, which has been difficult to resolve with past methods, appears as a tetrad arrangement of two horizontal cell and two rod bipolar cell processes. Retinal detachment severely disrupts this organization. After 7 d, EM tomography reveals withdrawal of rod bipolar dendrites from most spherules; fragmentation of synaptic ribbons, which lose their tight association with the presynaptic membrane; and loss of the highly branched telodendria of the horizontal cell axon terminals. After detachment, the hilus, the opening through which postsynaptic processes enter the invagination, enlarges, exposing the normally sequestered environment within the invagination to the extracellular space of the outer plexiform layer. Our use of EM tomography provides the most accurate description to date of the complex rod synapse and details changes it undergoes during outer segment degeneration. These changes would be expected to disrupt the flow of information in the rod pathway.SIGNIFICANCE STATEMENT Ribbon-type synapses transmit the first electrical signals of vision and hearing. Despite their crucial role in sensory physiology, the three-dimensional ultrastructure of these synapses, especially the complex organization of the rod photoreceptor synapse, is not well understood. We used EM tomography to obtain 3-D imaging at nanoscale resolution to help resolve the organization of rod synapses in normal and detached retinas. This approach has enabled us to show that in the normal retina a single ribbon and arciform density oppose a tetrad of postsynaptic processes. In addition, it enabled us to provide a 3-D perspective of the ultrastructural changes that occur in response to retinal detachment.

LRIT3 expression in cone photoreceptors restores post-synaptic bipolar cell signalplex assembly and partial function in Lrit3−/− mice

Complete congenital stationary night blindness (cCSNB) is a heterogeneous disorder characterized by poor dim-light vision, myopia, and nystagmus that is caused by mutations in genes critical for signal transmission between photoreceptors and depolarizing bipolar cells (DBCs). One such gene, LRIT3, is required for assembly of the post-synaptic signaling complex (signalplex) at the dendritic tips of DBCs, although the number of signalplex components impacted is greater in cone DBCs (all components) than in rod bipolar cells (only TRPM1 and Nyctalopin). Here we show that rAAV-mediated expression of LRIT3 in cones results in robust rescue of cone DBC signalplex components and partially restores downstream visual function, as measured by the light-adapted electroretinogram (ERG) b-wave and electrophysiological recordings of bipolar cells (BCs) and RGCs. These data show that LRIT3 successfully restores partial function to cone DBCs most likely in a trans-synaptic manner, potentially paving the way for therapeutic intervention in LRIT3-associated cCSNB.

Diversified mammalian visual adaptations to bright- or dim-light environments.

Photic niche shifts of mammals are associated with changing visual capabilities, primarily mediated by three visual pigments, two (SWS1 and M/LWS) of them for color vision and rhodopsin (RH1) for dim-light vision. To further elucidate molecular mechanisms of mammalian visual adaptations to different light environments, a systematic study incorporating evolutionary analyses across diverse groups and in vitro assays have been carried out. Here, we collected gene sequences for the three opsins from 220 species covering all major mammalian clades. After screening for cone opsin gene losses, we estimated selective pressures on each of the three genes and compared the levels of selection experienced by species living in bright- and dim-light environments. SWS1 pigment is shown to experience accelerated evolution in species living in bright-light environments as has RH1 in aquatic cetaceans, indicating potential shifts for ecological adaptations. To further elucidate the functional mechanisms for these two pigments, we then carried out site-directed mutagenesis in representative taxa. For SWS1, violet and ultraviolet (UV) sensitivity in the pika and mouse are mainly affected by substitutions at the critical sites 86 and 93, which have strong epistatic interaction. For RH1, the phenotypic difference between the sperm whale and bovine sequences is largely contributed by a substitution at site 195, which could be critical for dim-light sensation for deep-diving species. Different evolutionary patterns for the visual pigments have been identified in mammals, which correspond to photic niches, although additional phenotypic assays are still required to fully explain the functional mechanisms.

Visual opsins: Physiological alteration promoted by led light

Rods are the most sensitive cells to light present in the retina, being therefore responsible for dim light vision. Light photons captured by the retina stimulate rhodopsin, promoting phototransduction mechanisms that end up sending the information to the brain. However, overexposure to light and continuous receptor stimulation may promote retinal damage. Thus, artificial light might have harmful effects on the retina, most particularly in rods. Light‐emitting diodes (LEDs) are nowadays the most used devices, and therefore their potential damage to the visual system should be evaluated and considered as a potential environmental factor in retinal degeneration. Particularly in Wistar rats, tonic receptors stimulation under constant light exposure (LL) produces retinal remodeling, inducing classical photoreceptors death and a re-location of non-classical opsins.This work aims to show the effects of LED devices on rat retinas under intermittent stimulation. Wistar rats were exposed to white LED under 12:12 light/dark cycles for seven days (LD) to finally analyze the number of photoreceptors nuclei, electroretinograms (ERGs) activity, and glial activation. Our findings demonstrate that animals exposed to LED devices, even when they have intermittent periods of rest in darkness, present early retinal injury after seven days, compared with animals maintained in housing conditions (LDR) or darkness (DD). Altogether, these results suggest that extended LD conditions might induce retinal damage as constant light exposure (LL) does.

Visual detection threshold in the echolocating Daubenton's bat (Myotis daubentonii).

All bats possess eyes that are of adaptive value. Echolocating bats have retinae dominated by rod photoreceptors and use dim light vision for navigation, and in rare cases for hunting. However, the visual detection threshold of insectivorous echolocating bats remains unknown. Here, we determined this threshold for the vespertilionid bat Myotis daubentonii. We show that for a green luminous target, M. daubentonii has a visual luminance threshold of 3.2(±0.9)×10-4cdm-2, an intensity corresponding to the luminance of an open cloudless terrestrial habitat on a starlit night. Our results show that echolocating bats have good visual sensitivity, allowing them to see during their active periods. Together with previous results showing that M. daubentonii has poor visual acuity (∼0.6 cycles deg-1), this suggests that echolocating bats do not use vision to hunt but rather to orient themselves.

Accelerated evolution of dim-light vision-related arrestin in deep-diving amniotes

Arrestins are key molecules involved in the signaling of light-sensation initiated by visual pigments in retinal photoreceptor cells. Vertebrate photoreceptor cells have two types of arrestins, rod arrestin, which is encoded by SAG and is expressed in both rods and cones, and cone arrestin, encoded by ARR3 in cones. The arrestins can bind to visual pigments, and thus regulate either dim-light vision via interactions with rhodopsin or bright-light vision together with cone visual pigments. After adapting to terrestrial life, several amniote lineages independently went back to the sea and evolved deep-diving habits. Interestingly, the rhodopsins in these species exhibit specialized phenotypes responding to rapidly changing dim-light environments. However, little is known about whether their rod arrestin also experienced adaptive evolution associated with rhodopsin. Here, we collected SAG coding sequences from >250 amniote species, and examined changes in selective pressure experienced by the sequences from deep-diving taxa. Divergent patterns of evolution of SAG were observed in the penguin, pinniped and cetacean clades, suggesting possible co-adaptation with rhodopsin. After verifying pseudogenes, the same analyses were performed for cone arrestin (ARR3) in deep-diving species and only sequences from cetacean species, and not pinnipeds or penguins, have experienced changed selection pressure compared to other species. Taken together, this evidence for changes in selective pressures acting upon arrestin genes strengthens the suggestion that rapid dim-light adaptation for deep-diving amniotes require SAG, but not ARR3.

Genetic tuning of β-carotene oxygenase-1 activity rescues cone photoreceptor function in STRA6-deficient mice.

Rod and cone photoreceptors in the retina mediate dim light and daylight vision, respectively. Despite their distinctive functions, rod and cone visual pigments utilize the same vitamin A-derived chromophore. To sustain vision, vitamin A precursors must be acquired in the gut, metabolized, and distributed to the eyes. Deficiencies in this pathway in inherited ocular disease states deplete cone photoreceptors from chromophore and eventually lead to cell death, whereas the more abundant rod photoreceptors are less affected. However, pathways that support cone function and survival under such conditions are largely unknown. Using biochemical, histological, and physiological approaches, we herein show that intervention with β-carotene in STRA6-deficient mice improved chromophore supply to cone photoreceptors. Relieving the inherent negative feedback regulation of β-carotene oxygenase-1 activity in the intestine by genetic means further bolstered cone photoreceptor functioning in the STRA6-deficient eyes. A vitamin A-rich diet, however, did not improve cone photoreceptor function in STRA6-deficiency. We provide evidence that the beneficial effect of β-carotene on cones results from favorable serum kinetics of retinyl esters in lipoproteins. The respective alterations in lipoprotein metabolism maintained a steady supply of retinoids to the STRA6-deficient eyes, which ameliorated the competition for chromophore between rod and cone photoreceptors. Together, our study elucidates a cone photoreceptor-survival pathway and unravels an unexpected metabolic connection between the gut and the retina.

Development of dim-light vision in the nocturnal reef fish family Holocentridae. II: Retinal morphology.

ABSTRACTOntogenetic changes in the habitats and lifestyles of animals are often reflected in their visual systems. Coral reef fishes start life in the shallow open ocean but inhabit the reef as juveniles and adults. Alongside this change in habitat, some species also change lifestyles and become nocturnal. However, it is not fully understood how the visual systems of nocturnal reef fishes develop and adapt to these significant ecological shifts over their lives. Therefore, we used a histological approach to examine visual development in the nocturnal coral reef fish family, Holocentridae. We examined 7 representative species spanning both subfamilies, Holocentrinae (squirrelfishes) and Myripristinae (soldierfishes). Pre-settlement larvae showed strong adaptation for photopic vision with high cone densities and had also started to develop a multibank retina (i.e. multiple rod layers), with up to two rod banks present. At reef settlement, holocentrids showed greater adaptation for scotopic vision, with higher rod densities and higher summation of rods onto the ganglion cell layer. By adulthood, they had well-developed scotopic vision with a highly rod-dominated multibank retina comprising 5–17 rod banks and enhanced summation of rods onto the ganglion cell layer. Although the ecological demands of the two subfamilies were similar throughout their lives, their visual systems differed after settlement, with Myripristinae showing more pronounced adaptation for scotopic vision than Holocentrinae. Thus, it is likely that both ecology and phylogeny contribute to the development of the holocentrid visual system.

Development of dim-light vision in the nocturnal reef fish family Holocentridae. I: Retinal gene expression.

ABSTRACTDevelopmental changes to the visual systems of animals are often associated with ecological shifts. Reef fishes experience a change in habitat between larval life in the shallow open ocean to juvenile and adult life on the reef. Some species also change their lifestyle over this period and become nocturnal. While these ecological transitions are well documented, little is known about the ontogeny of nocturnal reef fish vision. Here, we used transcriptomics to investigate visual development in 12 representative species from both subfamilies, Holocentrinae (squirrelfishes) and Myripristinae (soldierfishes), in the nocturnal coral reef fish family, Holocentridae. Results revealed that the visual systems of holocentrids are initially well adapted to photopic conditions with pre-settlement larvae having high levels of cone opsin gene expression and a broad cone opsin gene repertoire (8 genes). At reef settlement, holocentrids started to invest more in their scotopic visual system, and compared with adults, showed upregulation of genes involved in cell differentiation/proliferation. By adulthood, holocentrids had well developed scotopic vision with high levels of rod opsin gene expression, reduced cone opsin gene expression and repertoire (1–4 genes) and upregulated phototransduction genes. Finally, although the two subfamilies shared similar ecologies across development, their visual systems diverged after settlement, with Myripristinae investing more in scotopic vision than Holocentrinae. Hence, both ecology and phylogeny are likely to determine the development of the holocentrid visual system.

Ancient whale rhodopsin reconstructs dim-light vision over a major evolutionary transition: Implications for ancestral diving behavior

Cetaceans are fully aquatic mammals that descended from terrestrial ancestors, an iconic evolutionary transition characterized by adaptations for underwater foraging via breath-hold diving. Although the evolutionary history of this specialized behavior is challenging to reconstruct, coevolving sensory systems may offer valuable clues. The dim-light visual pigment, rhodopsin, which initiates phototransduction in the rod photoreceptors of the eye, has provided insight into the visual ecology of depth in several aquatic vertebrate lineages. Here, we use ancestral sequence reconstruction and protein resurrection experiments to quantify light-activation metrics in rhodopsin pigments from ancestors bracketing the cetacean terrestrial-to-aquatic transition. By comparing multiple reconstruction methods on a broadly sampled cetartiodactyl species tree, we generated highly robust ancestral sequence estimates. Our experimental results provide direct support for a blue-shift in spectral sensitivity along the branch separating cetaceans from terrestrial relatives. This blue-shift was 14 nm, resulting in a deep-sea signature (λmax = 486 nm) similar to many mesopelagic-dwelling fish. We also discovered that the decay rates of light-activated rhodopsin increased in ancestral cetaceans, which may indicate an accelerated dark adaptation response typical of deeper-diving mammals. Because slow decay rates are thought to help sequester cytotoxic photoproducts, this surprising result could reflect an ecological trade-off between rod photoprotection and dark adaptation. Taken together, these ancestral shifts in rhodopsin function suggest that some of the first fully aquatic cetaceans could dive into the mesopelagic zone (>200 m). Moreover, our reconstructions indicate that this behavior arose before the divergence of toothed and baleen whales.

Molecular evolution and depth-related adaptations of rhodopsin in the adaptive radiation of cichlid fishes in Lake Tanganyika.

The visual sensory system is essential for animals to perceive their environment and is thus under strong selection. In aquatic environments, light intensity and spectrum differ primarily along a depth gradient. Rhodopsin (RH1) is the only opsin responsible for dim‐light vision in vertebrates and has been shown to evolve in response to the respective light conditions, including along a water depth gradient in fishes. In this study, we examined the diversity and sequence evolution of RH1 in virtually the entire adaptive radiation of cichlid fishes in Lake Tanganyika, focusing on adaptations to the environmental light with respect to depth. We show that Tanganyikan cichlid genomes contain a single copy of RH1. The 76 variable amino acid sites detected in RH1 across the radiation were not uniformly distributed along the protein sequence, and 31 of these variable sites show signals of positive selection. Moreover, the amino acid substitutions at 15 positively selected sites appeared to be depth‐related, including three key tuning sites that directly mediate shifts in the peak spectral sensitivity, one site involved in protein stability and 11 sites that may be functionally important on the basis of their physicochemical properties. Among the strongest candidate sites for deep‐water adaptations are two known key tuning sites (positions 292 and 299) and three newly identified variable sites (37, 104 and 290). Our study, which is the first comprehensive analysis of RH1 evolution in a massive adaptive radiation of cichlid fishes, provides novel insights into the evolution of RH1 in a freshwater environment.

Vision in dim light and the evolution of color pattern in a crepuscular/nocturnal frog

Vision in dim light and the evolution of color pattern in a crepuscular/nocturnal frog

Quantum-classical simulations of rhodopsin reveal excited-state population splitting and its effects on quantum efficiency.

The activation of rhodopsin, the light-sensitive G-protein coupled receptor responsible for dim-light vision in vertebrates, is driven by an ultrafast excited-state double-bond isomerization with a quantum efficiency of almost 70%. The origin of such light sensitivity is not understood and a key question is whether in-phase nuclear motion controls the quantum efficiency value. Here, we use hundreds of quantum-classical trajectories to show that, 15 femtoseconds after light absorption, a degeneracy between the reactive excited state and a neighboring state causes the splitting of the rhodopsin population into subpopulations. These subpopulations propagate with different velocities and lead to distinct contributions to the quantum efficiency. We also show that such splitting is modulated by protein electrostatics, thus linking amino-acid sequence variations to quantum efficiency modulation. Finally, we discuss how such a linkage that in principle could be exploited to achieve higher quantum efficiencies, would simultaneously increase the receptor thermal noise leading to a trade-off that may have played a role in rhodopsin evolution.

Novel Pathognomonic Variant of Atypical Type IV Usher Syndrome with Retinitis Pigmentosa- A Case Report

Retinitis Pigmentosa (RP) is a genetically heterogeneous group of inherited retinal disorders causing progressive dysfunction of rod photoreceptor and retinal pigment epithelium, may be seen in isolation or in association with systemic disease. This paper focuses on RP in an atypical type 4 usher’s patient. Usher’s syndrome is a rare disorder and is the most common hereditary form of deafblindness. The management of these patients is multidisciplinary, involving specialists from different fields. Hereby, author present a case of 47-year-old male patient presented with chief complaints of defective vision in both eyes and defective vision in dim light for past six months. On fundus examination of both the eyes, he was diagnosed to have bilateral RP and on pure tone audiometry, he was diagnosed to have bilateral sensorineural deafness. Molecular gene analysis was done and it revealed Arylsulfatase G (ARSG) gene mutation. The patient was prescribed spectacles for his visual improvement.