# Sphingolipidoses and Retinal Involvement: A Comprehensive Review
## 4 Subtypes of Sphingolipidoses
### Gaucher Disease
#### 4.2.2 Retinal Manifestations
\begin{table}
\begin{tabular}{p{56.9 pt} p{113.8 pt} p{113.8 pt} p{113.8 pt} p{113.8 pt}} \hline
**Disease (Incidence)** & \begin{tabular}{c} **Defective** \\ **Enzyme** \\ **(Mutated Gene)** \\ \end{tabular} & \begin{tabular}{c} **Primary Storage** \\ **Compound** \\ \end{tabular} & \
\begin{tabular}{c} **Systemic Symptoms** \\ **and Manifestations** \\ \end{tabular} &
\begin{tabular}{c} **Ocular Manifestations** \\ **(Non-Retinal** \\ **and Retinal Manifestations)** \\ \end{tabular} \\ \hline
**Gaucher type IIIb** & \begin{tabular}{c} Gluco-cerebrosidase \\ (GBA1) \\ [74, 85] \\ \end{tabular} & \begin{tabular}{c} Gluco-yslphingsoine and \\ glucose-slyceramide [74, 85] \\ \end{tabular} & \begin{tabular}{c} **Severe visceral symptoms** \\ **and slowly progressive** \\ **CNS involvement**: \\ hepatspelbenzomegaly, \\ growth retardation, bony \\ symptoms \\ Death in early adulthood. \\ [74, 85] \\ \end{tabular} & \begin{tabular}{c} **Severe visceral symptoms** \\ **and slowly progressive** \\ **CNS involvement**: \\ hepatspelbenzomegaly, \\ growth retardation, bony \\ symptoms \\ Death in early adulthood. \\ [74, 85] \\ \end{tabular} & \begin{tabular}{c} **Secure visceral symptoms** \\ **and slowly progressive** \\ **CNS involvement**: \\ **Retinal manifestations**: \\ **retinal white dots (amorphous \\ deposits between ILM and \\ vitreous, and at vitreous level) \\ [82, 83, 84] \\ \end{tabular} & \
\begin{tabular}{c} **Coardiovascular** \\ **involvement**: progressive \\ cardiac values disease, \\ aortic calcifications [87, 88] \\ \end{tabular} &
\begin{tabular}{c} **Non retinal manifestations**: \\ **corneal stromal opacities and \\ ocular motility distinction [76] \\ \end{tabular} \\ \hline
**Gaucher type IIIc** & \begin{tabular}{c} Glucocerebrosidase \\ (GBA1)-associated with \\ the D409H mutation \\ [87, 88] \\ \end{tabular} & \begin{tabular}{c} **Cardiovascular** \\ **involvement**: progressive \\ cardiac values disease, \\ aortic calcifications [87, 88] \\ \end{tabular} & \
\begin{tabular}{c} **Cardiovascular** \\ **involvement**: progressive \\ cardiac values disease, \\ aortic calcifications [87, 88] \\ \end{tabular} &
\begin{tabular}{c} **Non retinal manifestations**: \\ **corneal stromal opacities and \\ ocular motility distinction [76] \\ \end{tabular} \\ \hline \end{tabular}
\end{table} 
Table 2: _Cont._Recent advancements suggest that SD-OCT imaging may have predictive and monitoring applications in GD beyond ocular involvement. In a study by [PERSON] et al., where patients with GD1 were compared to healthy controls, it was reported that patients with GD1 had a higher incidence of abnormal peripapillary RNFL on SD-OCT scans. Moreover, the authors showed a significantly thinner peripapillary RNFL and macular ganglion cell complex compared to the healthy control population [28]. In a similar study involving patients with GD, carriers of the glucocerebosidase gene (GBA) who exhibited clinical signs of possible early neurodegeneration [29] demonstrated a reduced average ganglion cell complex thickness when compared to both the control group and GD patients or carriers without such clinical indicators of potential early neurodegeneration. Thus, SD-OCT could be helpful in monitoring retinal complications and neurological progression [29]. Complementary examinations of significant value are ERG and VEPs. Studies have demonstrated that glucosylceramide accumulation in glial cells leads to impaired functionality, as evidenced by an altered ERG response characterized by a 50% reduction in the b-wave amplitude of the scotopic response and a 40% reduction in the general response [15]. These findings highlight the utility of ERG in detecting functional changes at a preclinical stage, even when the patients remain asymptomatic from a visual standpoint. Conversely, VEPs were found to be within normal parameters [15].